DM1
MCID: MYT021
MIFTS: 66

Myotonic Dystrophy 1 (DM1)

Categories: Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Myotonic Dystrophy 1

MalaCards integrated aliases for Myotonic Dystrophy 1:

Name: Myotonic Dystrophy 1 56 73 13 37 71
Myotonic Dystrophy Type 1 12 24 52 58 15
Steinert Disease 56 12 52 58 73
Dystrophia Myotonica 56 12 74 73
Dm1 56 52 58 73
Congenital Myotonic Dystrophy 12 52 71
Steinert Myotonic Dystrophy 52 58 73
Steinert Myotonic Dystrophy Syndrome 29 6
Dystrophia Myotonica 1 56 73
Myotonic Dystrophy 43 71
Steinert's Disease 24 52
Dm 56 73
Myotonic Dystrophy of Steinert 12
Myotonic Dystrophy Congenital 54
Dystrophia Myotonica Type 1 52
Dystrophy, Myotonic, Type 1 39
Dystrophia Myotonica; Dm 56
Md1 58

Characteristics:

Orphanet epidemiological data:

58
steinert myotonic dystrophy
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Europe),1-5/10000 (United Kingdom),1-5/10000 (Iceland),1-9/100000 (Serbia),1-9/100000 (Japan),1-9/1000000 (Taiwan, Province of China),1-5/10000 (South Africa),6-9/10000,>1/1000,1-9/1000000 (Serbia),1-9/100000 (Italy),1-5/10000 (Ireland),1-5/10000,1-9/100000,1-5/10000 (Croatia); Age of onset: Adult,Neonatal; Age of death: any age;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
genetic anticipation occurs
prevalence of in 1 in 8,000
normal - 5 to 37 copies of (ctg)n repeat in dmpk
affected, mild - 50-150 repeats
adult onset - 100-1,000 repeats
congenital - over 2,000 repeats
negative repeat expansion (reverse anticipation) can occur (approximately 5% of the time)


HPO:

31
myotonic dystrophy 1:
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Penetrance is high (nearly 100% by age 50 years) when all manifestations of the disease, even those that are subtle, are sought. however, mild cases (e.g., persons with only cataracts) may be missed [moxley & meola 2008].

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare infertility disorders
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Myotonic Dystrophy 1

NIH Rare Diseases : 52 Myotonic dystrophy type 1 (MD1), one of the two types of myotonic dystrophy , is an inherited type of muscular dystrophy that affects the muscles and other body systems (e.g., heart, eyes, endocrine system , and central nervous system ). MD1 has three forms that somewhat overlap: the mild form, classic form, and congenital form (present at birth). The mild form has the least severe symptoms of the different forms of MD1 and is associated with a normal life span. The classic form is characterized by muscle weakness and wasting, prolonged muscle tensing (myotonia ), cataract , and often, abnormal heart function. Adults with the classic form may become physically disabled and may have a shortened life span. The congenital form is characterized by severe generalized weakness at birth (hypotonia ) , often causing complications with breathing and early death. MD1 is inherited in an autosomal dominant manner and is caused by mutations in the DMPK gene . Treatment is based on the signs and symptoms present.

MalaCards based summary : Myotonic Dystrophy 1, also known as myotonic dystrophy type 1, is related to myotonic dystrophy and myotonia congenita, and has symptoms including excessive daytime somnolence and weakness. An important gene associated with Myotonic Dystrophy 1 is DMPK (DM1 Protein Kinase), and among its related pathways/superpathways is Adipogenesis. The drugs Dopamine and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include heart, skeletal muscle and thyroid, and related phenotypes are hypertonia and intellectual disability, severe

Disease Ontology : 12 A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has material basis in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region.

OMIM : 56 Myotonic dystrophy is an autosomal dominant disorder characterized mainly by myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, and ECG changes. The genetic defect in DM1 results from an amplified trinucleotide repeat in the 3-prime untranslated region of a protein kinase gene. Disease severity varies with the number of repeats: normal individuals have 5 to 37 repeats, mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with congenital onset can have more than 2,000 repeats. The disorder shows genetic anticipation, with expansion of the repeat number dependent on the sex of the transmitting parent. Alleles of 40 to 80 repeats are usually expanded when transmitted by males, whereas only alleles longer than 80 repeats tend to expand in maternal transmissions. Repeat contraction events occur 4.2 to 6.4% of the time (Musova et al., 2009). (160900)

UniProtKB/Swiss-Prot : 73 Dystrophia myotonica 1: A muscular disorder characterized by myotonia, muscle wasting in the distal extremities, cataract, hypogonadism, defective endocrine functions, male baldness and cardiac arrhythmias.

Wikipedia : 74 Myotonic dystrophy is a long-term genetic disorder that affects muscle function. Symptoms include... more...

GeneReviews: NBK1165

Related Diseases for Myotonic Dystrophy 1

Diseases in the Myotonic Dystrophy family:

Myotonic Dystrophy 1 Myotonic Dystrophy 2

Diseases related to Myotonic Dystrophy 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 826, show less)
# Related Disease Score Top Affiliating Genes
1 myotonic dystrophy 32.0 SIX5 MBNL3 MBNL2 MBNL1 DMPK CNBP
2 myotonia congenita 31.2 DMPK CNBP CLCN1 CCT3
3 myotonia 30.6 DMPK CNBP CLCN1
4 fuchs' endothelial dystrophy 30.3 MBNL2 MBNL1 DMPK
5 myotonic dystrophy 2 30.3 YIPF7 SIX5 MBNL3 MBNL2 MBNL1 DMPK
6 muscular dystrophy 29.9 MBNL1 DMPK CLCN1 CELF1 ATP2A1
7 hyperkalemic periodic paralysis 29.8 DMPK CNBP CLCN1 CCT3
8 neuromuscular disease 29.7 MBNL1 ERCC6 DMPK CNBP CELF1 CCT3
9 cataract 29.6 SIX5 MBNL1 ERCC6 DMPK CNBP
10 huntington disease-like 2 29.6 MBNL1 DMPK CNBP CELF1 CCT3 ATXN10
11 fragile x-associated tremor/ataxia syndrome 29.4 MBNL1 DMPK CNBP CELF1 C9orf72 ATXN10
12 spinocerebellar ataxia 8 29.4 MBNL1 DMPK CNBP CELF1 CCT3 C9orf72
13 autosomal dominant cerebellar ataxia 29.0 MBNL1 ERCC6 DMPK CNBP CELF1 CCT3
14 muscular disease 28.4 MIR33A MBNL2 MBNL1 ERCC6 DMPK CNBP
15 myotonic disease 26.7 YIPF7 SIX5 MIR33A MBNL3 MBNL2 MBNL1
16 epidermolysis bullosa simplex, dowling-meara type 12.0
17 childhood type dermatomyositis 11.7
18 myotonic cataract 11.6
19 nondystrophic myotonia 11.6
20 maturity-onset diabetes of the young 11.6
21 diabetes insipidus 11.6
22 diabetes mellitus, insulin-dependent 11.5
23 neonatal dermatomyositis 11.5
24 dermatomyositis 11.5
25 major affective disorder 1 11.4
26 floppy infant syndrome 11.3
27 infantile hypotonia 11.3
28 corneal dystrophy, posterior polymorphous, 1 11.3
29 diaphyseal medullary stenosis with malignant fibrous histiocytoma 11.2
30 diffuse mesangial sclerosis 11.2
31 epidermolysis bullosa simplex, ogna type 11.1
32 denys-drash syndrome 11.1
33 nephrotic syndrome, type 4 11.1
34 epidermolysis bullosa simplex with migratory circinate erythema 11.1
35 nephrotic syndrome, type 3 11.1
36 wolfram syndrome 11.1
37 hypogonadotropic hypogonadism 10.4
38 progressive familial heart block, type ia 10.4
39 narcolepsy 10.4
40 sensory peripheral neuropathy 10.4
41 dysphagia 10.3
42 hyperthyroidism 10.3
43 alacrima, achalasia, and mental retardation syndrome 10.3
44 atrial fibrillation 10.3
45 left bundle branch hemiblock 10.3
46 mammary paget's disease 10.3
47 adenoma 10.3
48 myocarditis 10.3
49 neuropathy 10.3
50 hypersomnia 10.3
51 myopathy of extraocular muscle 10.3 MBNL1 DMPK CELF1
52 mitochondrial myopathy 10.3
53 autism spectrum disorder 10.3
54 spinal muscular atrophy 10.3
55 diarrhea 10.3
56 expressive language disorder 10.3 ERCC6 CEBPD
57 amyotrophic lateral sclerosis 1 10.2
58 machado-joseph disease 10.2
59 brugada syndrome 10.2
60 first-degree atrioventricular block 10.2
61 left ventricular noncompaction 10.2
62 hyperparathyroidism 10.2
63 azoospermia 10.2
64 constipation 10.2
65 lateral sclerosis 10.2
66 basal cell carcinoma 10.2
67 autonomic dysfunction 10.2
68 premature aging 10.2
69 melanoma, uveal 10.2
70 primary hyperparathyroidism 10.2
71 amenorrhea 10.2
72 agammaglobulinemia 10.2
73 glucose intolerance 10.2
74 ischemia 10.2
75 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.2
76 hyperglycemia 10.2
77 amyloidosis, hereditary, transthyretin-related 10.2
78 atrial standstill 1 10.2
79 craniometaphyseal dysplasia, autosomal dominant 10.2
80 hyperostosis frontalis interna 10.2
81 melkersson-rosenthal syndrome 10.2
82 nail-patella syndrome 10.2
83 paramyotonia congenita of von eulenburg 10.2
84 thrombocytopenic purpura, autoimmune 10.2
85 volvulus of midgut 10.2
86 atrioventricular dissociation 10.2
87 thymoma, familial 10.2
88 branchiootic syndrome 1 10.2
89 macular degeneration, age-related, 1 10.2
90 orthostatic intolerance 10.2
91 muscle hypertrophy 10.2
92 alkuraya-kucinskas syndrome 10.2
93 metabolic acidosis 10.2
94 pain agnosia 10.2
95 cardiac arrest 10.2
96 miyoshi muscular dystrophy 10.2
97 charcot-marie-tooth disease 10.2
98 tooth disease 10.2
99 hemiplegia 10.2
100 tetanus 10.2
101 clubfoot 10.2
102 cholestasis 10.2
103 selective igg deficiency disease 10.2
104 ichthyosis 10.2
105 mitral valve stenosis 10.2
106 hyperinsulinism 10.2
107 hyperostosis 10.2
108 acromegaly 10.2
109 thymoma 10.2
110 purpura 10.2
111 bone inflammation disease 10.2
112 pituitary adenoma 10.2
113 colonic pseudo-obstruction 10.2
114 muscle cancer 10.2
115 syphilis 10.2
116 pleomorphic adenoma 10.2
117 poliomyelitis 10.2
118 peripheral nervous system disease 10.2
119 paraplegia 10.2
120 thyroiditis 10.2
121 fundus dystrophy 10.2
122 malignant hyperthermia 10.2
123 hypopituitarism 10.2
124 latent syphilis 10.2
125 47, xxy 10.2
126 cutis verticis gyrata 10.2
127 immunoglobulin g deficiency 10.2
128 spasticity 10.2
129 syncope 10.2
130 congenital amyoplasia 10.2
131 inherited retinal disorder 10.2
132 hydrops fetalis, nonimmune 10.2
133 pheochromocytoma 10.2
134 adrenal gland pheochromocytoma 10.2
135 neuroendocrine tumor 10.2
136 islet cell tumor 10.2
137 cystadenoma 10.2
138 hemangioblastoma 10.2
139 ovarian serous cystadenocarcinoma 10.2
140 hypogonadism, male 10.2
141 insulin-like growth factor i 10.2
142 spastic paraplegia, intellectual disability, nystagmus, and obesity 10.2
143 normal pressure hydrocephalus 10.2
144 heart septal defect 10.2
145 atrial heart septal defect 10.2
146 apnea, obstructive sleep 10.1
147 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 10.1
148 attention deficit-hyperactivity disorder 10.1
149 hypertriglyceridemia, familial 10.1
150 multiple system atrophy 1 10.1
151 autism 10.1
152 fragile x syndrome 10.1
153 barth syndrome 10.1
154 muscular dystrophy, duchenne type 10.1
155 kearns-sayre syndrome 10.1
156 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
157 restless legs syndrome 10.1
158 second-degree atrioventricular block 10.1
159 sinoatrial node disease 10.1
160 cholelithiasis 10.1
161 sick sinus syndrome 10.1
162 polyneuropathy 10.1
163 gingivitis 10.1
164 skin carcinoma 10.1
165 macular holes 10.1
166 seborrheic dermatitis 10.1
167 pathologic nystagmus 10.1
168 idiopathic hypersomnia 10.1
169 swallowing disorders 10.1
170 asthma 10.1
171 gestational diabetes 10.1
172 polymyositis 10.1
173 autoimmune disease 10.1
174 celiac disease 1 10.1
175 impotence 10.1
176 diabetes mellitus 10.1
177 spinocerebellar ataxia 36 10.1 C9orf72 ATXN10
178 myoglobinuria 10.1
179 goiter 10.1
180 leiomyoma 10.1
181 pseudohypoparathyroidism 10.1
182 fibromyalgia 10.1
183 parathyroid adenoma 10.1
184 hypoadrenalism 10.1
185 hypoaldosteronism 10.1
186 dysautonomia 10.1
187 argyria 10.1
188 skeletal muscle disease 10.1
189 brody myopathy 10.1 CLCN1 ATP2A1
190 rheumatoid arthritis 10.1
191 stroke, ischemic 10.1
192 coronary heart disease 1 10.1
193 microvascular complications of diabetes 3 10.1
194 microvascular complications of diabetes 4 10.1
195 microvascular complications of diabetes 6 10.1
196 microvascular complications of diabetes 7 10.1
197 interstitial lung disease 10.1
198 cerebrovascular disease 10.1
199 lung disease 10.1
200 echolalia 10.1 CEBPD C9orf72
201 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.1
202 myopathy, congenital, with fiber-type disproportion 10.1
203 muscular dystrophy, congenital, lmna-related 10.1
204 cyanosis, transient neonatal 10.1
205 hydrops, lactic acidosis, and sideroblastic anemia 10.1
206 congenital fiber-type disproportion 10.1
207 spinocerebellar ataxia 10 10.1 DMPK CNBP CCT3 ATXN10
208 hyperlipoproteinemia, type iii 10.0
209 coronary artery anomaly 10.0
210 kidney disease 10.0
211 neuroblastoma 10.0
212 end stage renal failure 10.0
213 chronic kidney disease 10.0
214 cleft palate, isolated 10.0
215 oculopharyngeal muscular dystrophy 10.0
216 palatopharyngeal incompetence 10.0
217 retinoblastoma 10.0
218 myeloma, multiple 10.0
219 retinitis pigmentosa 10.0
220 aging 10.0
221 hyperprolactinemia 10.0
222 asperger syndrome 10.0
223 multinodular goiter 10.0
224 basal ganglia calcification 10.0
225 non-alcoholic steatohepatitis 10.0
226 neuroretinitis 10.0
227 pre-eclampsia 10.0
228 portal hypertension 10.0
229 microcephaly 10.0
230 placenta praevia 10.0
231 hypoparathyroidism 10.0
232 mitral valve insufficiency 10.0
233 neutropenia 10.0
234 secondary hyperparathyroidism 10.0
235 locked-in syndrome 10.0
236 quadriplegia 10.0
237 eclampsia 10.0
238 gonadal dysgenesis 10.0
239 epilepsy 10.0
240 testicular cancer 10.0
241 retinitis 10.0
242 heart valve disease 10.0
243 familial retinoblastoma 10.0
244 postpoliomyelitis syndrome 10.0
245 pancreatitis 10.0
246 liver cirrhosis 10.0
247 ovarian cyst 10.0
248 lymphopenia 10.0
249 achalasia 10.0
250 dystrophinopathies 10.0
251 chromosomal triplication 10.0
252 headache 10.0
253 thomsen's myotonia 10.0
254 tremor 10.0
255 progeroid syndrome 10.0
256 overgrowth syndrome 10.0
257 spinal and bulbar muscular atrophy, x-linked 1 10.0 MBNL1 ERCC6 DMPK C9orf72
258 gastroesophageal reflux 10.0
259 basal cell nevus syndrome 10.0
260 central core disease of muscle 10.0
261 erythermalgia, primary 10.0
262 fibrosis of extraocular muscles, congenital, 1 10.0
263 hashimoto thyroiditis 10.0
264 prader-willi syndrome 10.0
265 dowling-degos disease 1 10.0
266 spinocerebellar ataxia 6 10.0
267 strabismus 10.0
268 syringomyelia, noncommunicating isolated 10.0
269 friedreich ataxia 10.0
270 pili torti, early-onset 10.0
271 muscular dystrophy, becker type 10.0
272 gallbladder disease 1 10.0
273 supranuclear palsy, progressive, 1 10.0
274 astigmatism 10.0
275 aceruloplasminemia 10.0
276 progressive familial heart block, type ib 10.0
277 androgenic alopecia 10.0
278 alexithymia 10.0
279 anosognosia 10.0
280 scoliosis 10.0
281 tibial muscular dystrophy 10.0
282 sensorineural hearing loss 10.0
283 monocular esotropia 10.0
284 rickets 10.0
285 schizotypal personality disorder 10.0
286 paranoid personality disorder 10.0
287 neonatal respiratory failure 10.0
288 erysipelas 10.0
289 alternating exotropia 10.0
290 exotropia 10.0
291 diabetic autonomic neuropathy 10.0
292 emery-dreifuss muscular dystrophy 10.0
293 myopia 10.0
294 male infertility 10.0
295 chronic progressive external ophthalmoplegia 10.0
296 keratoconjunctivitis sicca 10.0
297 right bundle branch block 10.0
298 beriberi 10.0
299 oligospermia 10.0
300 papilledema 10.0
301 keratosis 10.0
302 hemangioma 10.0
303 corneal dystrophy 10.0
304 glycogen storage disease 10.0
305 endometriosis 10.0
306 progressive muscular atrophy 10.0
307 oligodendroglioma 10.0
308 syringomyelia 10.0
309 hypokalemia 10.0
310 movement disease 10.0
311 mitochondrial metabolism disease 10.0
312 polyhydramnios 10.0
313 neuromyelitis optica 10.0
314 skin melanoma 10.0
315 learning disability 10.0
316 dyskinesia of esophagus 10.0
317 central sleep apnea 10.0
318 mechanical strabismus 10.0
319 keratoconjunctivitis 10.0
320 blepharitis 10.0
321 pulmonary embolism 10.0
322 refractive error 10.0
323 esotropia 10.0
324 limb-girdle muscular dystrophy 10.0
325 mitochondrial disorders 10.0
326 cardiac rupture 10.0
327 chronic intestinal pseudoobstruction 10.0
328 pili torti 10.0
329 pure autonomic failure 10.0
330 cerebral atrophy 10.0
331 dementia - subcortical 10.0
332 fainting 10.0
333 foot drop 10.0
334 myoclonus 10.0
335 specific language disorder 10.0
336 acute sensory ataxic neuropathy 10.0
337 metabolic myopathy 10.0
338 arteries, anomalies of 10.0
339 systemic lupus erythematosus 10.0
340 migraine with or without aura 1 10.0
341 triiodothyronine receptor auxiliary protein 10.0
342 diabetes mellitus, ketosis-prone 10.0
343 non-alcoholic fatty liver disease 10.0
344 respiratory failure 10.0
345 autonomic neuropathy 10.0
346 melanoma 10.0
347 benign mesothelioma 10.0
348 dermatitis 10.0
349 pulmonary tuberculosis 10.0
350 malignant pleural mesothelioma 10.0
351 bullous pemphigoid 10.0
352 fatty liver disease 10.0
353 chronic pain 10.0
354 cardiac conduction defect 10.0
355 diabetes mellitus, noninsulin-dependent 10.0
356 pilomatrixoma 10.0
357 huntington disease 10.0
358 facioscapulohumeral muscular dystrophy 1 10.0
359 hydrocephalus, congenital, 1 10.0
360 taqi polymorphism 10.0
361 yemenite deaf-blind hypopigmentation syndrome 10.0
362 microvascular complications of diabetes 1 10.0
363 body mass index quantitative trait locus 1 10.0
364 microvascular complications of diabetes 2 10.0
365 microvascular complications of diabetes 5 10.0
366 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.0
367 anaplastic large cell lymphoma 10.0
368 atrioventricular block 10.0
369 third-degree atrioventricular block 10.0
370 sleep apnea 10.0
371 cutaneous t cell lymphoma 10.0
372 ptosis 10.0
373 diabetic angiopathy 10.0
374 dilated cardiomyopathy 10.0
375 hypothyroidism 10.0
376 centronuclear myopathy 10.0
377 hypogonadism 10.0
378 iron metabolism disease 10.0
379 lipid metabolism disorder 10.0
380 thyroid gland disease 10.0
381 infertility 10.0
382 hypogonadotropism 10.0
383 diabetic neuropathy 10.0
384 hypoglycemia 10.0
385 hypoalphalipoproteinemia 10.0
386 47,xyy 10.0
387 hypotonia 10.0
388 posttransplant acute limbic encephalitis 10.0
389 thyroid carcinoma 10.0
390 alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality 9.9
391 moebius syndrome 9.9
392 papillomatosis, confluent and reticulated 9.9
393 polykaryocytosis inducer 9.9
394 down syndrome 9.9
395 cystinuria 9.9
396 myopathy, congenital 9.9
397 abnormal hair, joint laxity, and developmental delay 9.9
398 sudden infant death syndrome 9.9
399 patent ductus arteriosus 1 9.9
400 protein-losing enteropathy 9.9
401 asphyxia neonatorum 9.9
402 megacolon 9.9
403 facial paralysis 9.9
404 communicating hydrocephalus 9.9
405 cerebral palsy 9.9
406 gastric dilatation 9.9
407 double outlet right ventricle 9.9
408 placenta disease 9.9
409 ileus 9.9
410 collagen type vi-related disorders 9.9
411 hypertrophic cardiomyopathy 9.9
412 lama2-related muscular dystrophy 9.9
413 encephalopathy 9.9
414 hypoxia 9.9
415 immune hydrops fetalis 9.9
416 cardiac arrhythmia 9.9
417 neurofibromatosis, type iv, of riccardi 9.9
418 ventricular fibrillation, paroxysmal familial, 1 9.9
419 meningioma, radiation-induced 9.9
420 meningioma, familial 9.9
421 meningocele 9.9
422 hydrocephalus 9.9
423 spinal meningioma 9.9
424 gastroparesis 9.9
425 myopathy 9.9
426 secretory meningioma 9.9
427 lymphoplasmacyte-rich meningioma 9.9
428 adjustment disorder 9.9
429 muscular atrophy 9.9
430 wallerian degeneration 9.9
431 progressive muscular dystrophy 9.9
432 lens disease 9.9 MBNL1 ERCC6 DMPK CNBP CELF1 CCT3
433 ovarian hyperstimulation syndrome 9.9
434 pneumatosis cystoides intestinalis 9.9
435 intestinal pseudo-obstruction 9.9
436 sleep disorder 9.9
437 peritonitis 9.9
438 localized scleroderma 9.9
439 pattern dystrophy 9.9
440 corneal dystrophy, epithelial basement membrane 9.9
441 ischemic colitis 9.9
442 epithelial basement membrane dystrophy 9.9
443 megaesophagus 9.9
444 ocular hypotension 9.9
445 familial periodic paralysis 9.9 CNBP CLCN1
446 atherosclerosis susceptibility 9.9
447 breast cancer 9.9
448 colorectal cancer 9.9
449 dentatorubral-pallidoluysian atrophy 9.9
450 renal cell carcinoma, nonpapillary 9.9
451 thyroid carcinoma, familial medullary 9.9
452 mesothelioma, malignant 9.9
453 spinocerebellar ataxia 1 9.9
454 ovarian cancer 9.9
455 pemphigus vulgaris, familial 9.9
456 osteogenic sarcoma 9.9
457 ataxia and polyneuropathy, adult-onset 9.9
458 endometrial cancer 9.9
459 major depressive disorder 9.9
460 hepatitis c virus 9.9
461 helix syndrome 9.9
462 cutaneous lupus erythematosus 9.9
463 lymphocytic leukemia 9.9
464 amnestic disorder 9.9
465 heart disease 9.9
466 chagas disease 9.9
467 background diabetic retinopathy 9.9
468 toxic shock syndrome 9.9
469 avoidant personality disorder 9.9
470 personality disorder 9.9
471 mental depression 9.9
472 vaccinia 9.9
473 insulinoma 9.9
474 thyroid gland medullary carcinoma 9.9
475 pustulosis of palm and sole 9.9
476 pneumonia 9.9
477 congestive heart failure 9.9
478 periodontitis 9.9
479 herpes zoster 9.9
480 lupus erythematosus 9.9
481 psoriasis 9.9
482 severe nonproliferative diabetic retinopathy 9.9
483 pemphigus 9.9
484 48,xyyy 9.9
485 depression 9.9
486 back pain 9.9
487 acanthosis nigricans 9.9
488 neurofibromatosis, type ii 9.9
489 adie pupil 9.9
490 spondyloarthropathy 1 9.9
491 alopecia, androgenetic, 1 9.9
492 charcot-marie-tooth disease, demyelinating, type 1a 9.9
493 cone-rod dystrophy 2 9.9
494 esophageal cancer 9.9
495 malignant hyperthermia 1 9.9
496 klippel-trenaunay-weber syndrome 9.9
497 leukemia, chronic lymphocytic 9.9
498 lipomatosis, multiple 9.9
499 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 9.9
500 mitral valve prolapse 1 9.9
501 myotonia congenita, autosomal dominant 9.9
502 neurofibromatosis, type i 9.9
503 cyclic neutropenia 9.9
504 parkinson disease, late-onset 9.9
505 polycystic kidney disease 1 with or without polycystic liver disease 9.9
506 porphyria, acute intermittent 9.9
507 hutchinson-gilford progeria syndrome 9.9
508 reticular dystrophy of retinal pigment epithelium 9.9
509 stiff-person syndrome 9.9
510 thrombophilia due to thrombin defect 9.9
511 thyroid cancer, nonmedullary, 1 9.9
512 arachnoid cysts, intracranial 9.9
513 chordoma 9.9
514 corneal endothelial dystrophy 9.9
515 cryptorchidism, unilateral or bilateral 9.9
516 glycogen storage disease ii 9.9
517 lymphoma, hodgkin, classic 9.9
518 lambert syndrome 9.9
519 muscular dystrophy, limb-girdle, autosomal recessive 1 9.9
520 mycosis fungoides 9.9
521 myxedema 9.9
522 ocular motor apraxia 9.9
523 persistent mullerian duct syndrome, types i and ii 9.9
524 phenylketonuria 9.9
525 pituitary hormone deficiency, combined, 2 9.9
526 graves disease 1 9.9
527 werner syndrome 9.9
528 fragile x tremor/ataxia syndrome 9.9
529 wiskott-aldrich syndrome 9.9
530 charcot-marie-tooth disease, x-linked dominant, 1 9.9
531 premature ovarian failure 1 9.9
532 gonadoblastoma 9.9
533 frontotemporal dementia 9.9
534 epilepsy, idiopathic generalized 9.9
535 lymphoma, non-hodgkin, familial 9.9
536 rippling muscle disease 2 9.9
537 amyotrophic lateral sclerosis 7 9.9
538 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 9.9
539 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 9.9
540 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 9.9
541 peripartum cardiomyopathy 9.9
542 seizures, scoliosis, and macrocephaly/microcephaly syndrome 9.9
543 cardiac-urogenital syndrome 9.9
544 hypophosphatemia 9.9
545 arrhythmogenic right ventricular cardiomyopathy 9.9
546 exanthem 9.9
547 persistent mullerian duct syndrome 9.9
548 sexual disorder 9.9
549 apraxia 9.9
550 lung abscess 9.9
551 3-methylglutaconic aciduria 9.9
552 autosomal recessive limb-girdle muscular dystrophy 9.9
553 hyaline body myopathy 9.9
554 pleomorphic lipoma 9.9
555 blepharophimosis 9.9
556 suppression amblyopia 9.9
557 amblyopia 9.9
558 anhidrosis 9.9
559 arteriovenous malformation 9.9
560 pulmonary edema 9.9
561 xanthogranulomatous pyelonephritis 9.9
562 hemopericardium 9.9
563 horner's syndrome 9.9
564 infant gynecomastia 9.9
565 pericardial effusion 9.9
566 panuveitis 9.9
567 inflammatory spondylopathy 9.9
568 oligohydramnios 9.9
569 leukemia 9.9
570 secondary hyperparathyroidism of renal origin 9.9
571 hepatic coma 9.9
572 gynecomastia 9.9
573 endomyocardial fibrosis 9.9
574 dementia 9.9
575 hellp syndrome 9.9
576 acute cystitis 9.9
577 brain cancer 9.9
578 porphyria 9.9
579 hyperinsulinemic hypoglycemia 9.9
580 hepatic encephalopathy 9.9
581 rubeosis iridis 9.9
582 neonatal myasthenia gravis 9.9
583 alcohol use disorder 9.9
584 breast fibroadenoma 9.9
585 cholecystitis 9.9
586 exostosis 9.9
587 focal epilepsy 9.9
588 ankylosis 9.9
589 hidradenitis suppurativa 9.9
590 hidradenitis 9.9
591 gastroenteritis 9.9
592 craniosynostosis 9.9
593 arteriosclerosis 9.9
594 psychotic disorder 9.9
595 phimosis 9.9
596 long qt syndrome 9.9
597 acute pancreatitis 9.9
598 astrocytoma 9.9
599 aspiration pneumonitis 9.9
600 rhabdomyosarcoma 9.9
601 encapsulated thymoma 9.9
602 central nervous system disease 9.9
603 temporal lobe epilepsy 9.9
604 systemic mastocytosis 9.9
605 mastocytosis 9.9
606 intermittent claudication 9.9
607 skin disease 9.9
608 protein c deficiency 9.9
609 thyroid gland papillary carcinoma 9.9
610 restrictive cardiomyopathy 9.9
611 gastritis 9.9
612 tricuspid valve insufficiency 9.9
613 gait apraxia 9.9
614 intracranial embolism 9.9
615 myofibroma 9.9
616 dyslexia 9.9
617 placenta accreta 9.9
618 aggressive systemic mastocytosis 9.9
619 arteriosclerosis obliterans 9.9
620 demyelinating polyneuropathy 9.9
621 aortic valve insufficiency 9.9
622 severe combined immunodeficiency 9.9
623 spondylitis 9.9
624 axonal neuropathy 9.9
625 delusional disorder 9.9
626 retinal degeneration 9.9
627 nervous system disease 9.9
628 chickenpox 9.9
629 mitochondrial encephalomyopathy 9.9
630 progressive myoclonus epilepsy 9.9
631 rem sleep behavior disorder 9.9
632 amyloidosis 9.9
633 speech disorder 9.9
634 neurofibroma 9.9
635 senile cataract 9.9
636 muscular dystrophy, duchenne and becker type 9.9
637 dysferlinopathy 9.9
638 kcnk9 imprinting syndrome 9.9
639 malignant hyperthermia susceptibility 9.9
640 basal cell carcinoma, multiple 9.9
641 cytokine deficiency 9.9
642 cytoplasmic body myopathy 9.9
643 lymphangiectasis 9.9
644 myoclonus epilepsy 9.9
645 primary agammaglobulinemia 9.9
646 semantic dementia 9.9
647 skeletal dysplasias 9.9
648 weber syndrome 9.9
649 raynaud phenomenon 9.9
650 age-related hearing loss 9.9
651 farsightedness 9.9
652 hypertonia 9.9
653 paresthesia 9.9
654 spinal cord injury 9.9
655 angioosteohypertrophic syndrome 9.9
656 interatrial communication 9.9
657 idiopathic eosinophilic myositis 9.9
658 qualitative or quantitative defects of dysferlin 9.9
659 temporomandibular joint anomaly 9.9
660 transient neonatal myasthenia gravis 9.9
661 pik3ca-related overgrowth syndrome 9.9
662 laminopathy 9.9
663 alcohol dependence 9.7
664 burkitt lymphoma 9.7
665 candidiasis, familial, 1 9.7
666 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy 9.7
667 multiple sclerosis 9.7
668 corneal dystrophy, fuchs endothelial, 1 9.7
669 lymphoma, mucosa-associated lymphoid type 9.7
670 glaucoma, primary open angle 9.7
671 hypercholesterolemia, familial, 1 9.7
672 inclusion body myositis 9.7
673 leukemia, acute monocytic 9.7
674 myositis 9.7
675 optic nerve hypoplasia, bilateral 9.7
676 osteoporosis 9.7
677 prostate cancer 9.7
678 sarcoidosis 1 9.7
679 scleroderma, familial progressive 9.7
680 small cell cancer of the lung 9.7
681 tangier disease 9.7
682 lung cancer 9.7
683 premature centromere division 9.7
684 chediak-higashi syndrome 9.7
685 cystic fibrosis 9.7
686 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.7
687 methane production 9.7
688 myasthenia gravis 9.7
689 3-methylglutaconic aciduria, type iii 9.7
690 pancreatic cancer 9.7
691 body mass index quantitative trait locus 11 9.7
692 body mass index quantitative trait locus 9 9.7
693 dermatitis, atopic 9.7
694 body mass index quantitative trait locus 8 9.7
695 hypoalphalipoproteinemia, primary, 1 9.7
696 langerhans cell histiocytosis 9.7
697 hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy 9.7
698 late-onset retinal degeneration 9.7
699 diabetes mellitus, permanent neonatal 9.7
700 resting heart rate, variation in 9.7
701 mammographic density 9.7
702 body mass index quantitative trait locus 4 9.7
703 body mass index quantitative trait locus 10 9.7
704 anxiety 9.7
705 body mass index quantitative trait locus 7 9.7
706 myocardial infarction 9.7
707 human immunodeficiency virus type 1 9.7
708 photoparoxysmal response 2 9.7
709 intraocular pressure quantitative trait locus 9.7
710 bone mineral density quantitative trait locus 8 9.7
711 body mass index quantitative trait locus 12 9.7
712 body mass index quantitative trait locus 14 9.7
713 leukemia, acute lymphoblastic 9.7
714 bone mineral density quantitative trait locus 15 9.7
715 leptin deficiency or dysfunction 9.7
716 body mass index quantitative trait locus 18 9.7
717 leukemia, acute lymphoblastic 3 9.7
718 body mass index quantitative trait locus 19 9.7
719 body mass index quantitative trait locus 20 9.7
720 speech and communication disorders 9.7
721 peripheral vascular disease 9.7
722 pulmonary hypertension 9.7
723 aspirin allergy 9.7
724 aspiration pneumonia 9.7
725 inflammatory bowel disease 9.7
726 oculocutaneous albinism 9.7
727 oppositional defiant disorder 9.7
728 colorectal adenoma 9.7
729 oral squamous cell carcinoma 9.7
730 colon adenoma 9.7
731 lymphoma 9.7
732 drug allergy 9.7
733 cryptococcal meningitis 9.7
734 mucositis 9.7
735 mumps 9.7
736 berylliosis 9.7
737 common cold 9.7
738 nasopharyngitis 9.7
739 gastric lymphoma 9.7
740 interstitial nephritis 9.7
741 open-angle glaucoma 9.7
742 chronic pyelonephritis 9.7
743 filariasis 9.7
744 corneal edema 9.7
745 bullous keratopathy 9.7
746 q fever 9.7
747 ornithosis 9.7
748 pyelonephritis 9.7
749 neonatal diabetes mellitus 9.7
750 visual epilepsy 9.7
751 allergic hypersensitivity disease 9.7
752 dysthymic disorder 9.7
753 low compliance bladder 9.7
754 filarial elephantiasis 9.7
755 atypical depressive disorder 9.7
756 graves' disease 9.7
757 acute leukemia 9.7
758 cardiovascular system disease 9.7
759 conduct disorder 9.7
760 diabetic cataract 9.7
761 oral candidiasis 9.7
762 candidiasis 9.7
763 diffuse scleroderma 9.7
764 thrombocytopenia due to platelet alloimmunization 9.7
765 thrombocytopenia 9.7
766 endogenous depression 9.7
767 squamous cell carcinoma 9.7
768 vascular disease 9.7
769 dental caries 9.7
770 transient cerebral ischemia 9.7
771 keratopathy 9.7
772 larynx cancer 9.7
773 kidney cancer 9.7
774 melancholia 9.7
775 iga glomerulonephritis 9.7
776 antiphospholipid syndrome 9.7
777 substance abuse 9.7
778 acute kidney failure 9.7
779 food allergy 9.7
780 teratoma 9.7
781 mood disorder 9.7
782 histiocytosis 9.7
783 lynch syndrome 9.7
784 liver disease 9.7
785 systemic scleroderma 9.7
786 articulation disorder 9.7
787 mutism 9.7
788 sarcomatoid mesothelioma 9.7
789 ulnar neuropathy 9.7
790 retinal disease 9.7
791 bronchitis 9.7
792 b-cell lymphoma 9.7
793 osteoarthritis 9.7
794 influenza 9.7
795 arthritis 9.7
796 mucormycosis 9.7
797 monocytic leukemia 9.7
798 collagen disease 9.7
799 measles 9.7
800 eating disorder 9.7
801 rubella 9.7
802 intermediate coronary syndrome 9.7
803 gas gangrene 9.7
804 meningitis 9.7
805 bronchiectasis 9.7
806 alopecia 9.7
807 toxoplasmosis 9.7
808 albinism 9.7
809 acute monoblastic leukemia 9.7
810 acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 9.7
811 carcinoma showing thymus-like differentiation 9.7
812 disseminated infection with mycobacterium avium complex 9.7
813 dwarfism 9.7
814 elective mutism 9.7
815 familial colorectal cancer 9.7
816 haemophilus influenzae 9.7
817 odontoma 9.7
818 oral cancer 9.7
819 seizure disorder 9.7
820 cerebrofacial arteriovenous metameric syndrome 9.7
821 periodic paralysis 9.7
822 virus-associated trichodysplasia spinulosa 9.7
823 glomerular disease 9.7
824 intermediate dend syndrome 9.7
825 x-linked hereditary ataxia 9.6 MBNL2 MBNL1 DMPK CNBP CELF1 C9orf72
826 muscle tissue disease 9.6 MIR33A MBNL1 ERCC6 DMPK CNBP CLCN1

Graphical network of the top 20 diseases related to Myotonic Dystrophy 1:



Diseases related to Myotonic Dystrophy 1

Symptoms & Phenotypes for Myotonic Dystrophy 1

Human phenotypes related to Myotonic Dystrophy 1:

58 31 (showing 39, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001276
2 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
3 emg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0003457
4 myotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002486
5 skeletal muscle atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003202
6 mask-like facies 58 31 hallmark (90%) Very frequent (99-80%) HP:0000298
7 first degree atrioventricular block 58 31 hallmark (90%) Very frequent (99-80%) HP:0011705
8 facial palsy 58 31 frequent (33%) Frequent (79-30%) HP:0010628
9 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
10 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
11 abnormality of the endocrine system 58 31 frequent (33%) Frequent (79-30%) HP:0000818
12 respiratory distress 58 31 frequent (33%) Frequent (79-30%) HP:0002098
13 testicular atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0000029
14 intellectual disability, progressive 58 31 frequent (33%) Frequent (79-30%) HP:0006887
15 abnormal hair quantity 58 31 frequent (33%) Frequent (79-30%) HP:0011362
16 abnormality of cardiovascular system morphology 31 frequent (33%) HP:0030680
17 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
18 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
19 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
20 hip dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002827
21 hernia of the abdominal wall 58 31 occasional (7.5%) Occasional (29-5%) HP:0004299
22 abnormality of the upper urinary tract 58 31 occasional (7.5%) Occasional (29-5%) HP:0010935
23 non-midline cleft lip 58 31 occasional (7.5%) Occasional (29-5%) HP:0100335
24 atrial fibrillation 31 very rare (1%) HP:0005110
25 atrial flutter 31 very rare (1%) HP:0004749
26 dysphagia 31 HP:0002015
27 muscle weakness 31 HP:0001324
28 feeding difficulties in infancy 31 HP:0008872
29 polyhydramnios 31 HP:0001561
30 generalized hypotonia 31 HP:0001290
31 malformation of the heart and great vessels 58 Frequent (79-30%)
32 cholelithiasis 31 HP:0001081
33 hypogonadism 31 HP:0000135
34 decreased fetal movement 31 HP:0001558
35 excessive daytime sleepiness 31 HP:0002189
36 facial diplegia 31 HP:0001349
37 cerebral atrophy 31 HP:0002059
38 obsessive-compulsive trait 31 HP:0008770
39 frontal balding 31 HP:0002292

Symptoms via clinical synopsis from OMIM:

56
Abdomen Gastrointestinal:
dysphagia
recurrent intestinal pseudoobstruction
poor feeding (congenital form)

Cardiovascular Heart:
heart block
atrial arrhythmias
ekg abnormalities

Genitourinary Internal Genitalia Male:
hypogonadism
testicular atrophy

Muscle Soft Tissue:
weakness
myotonia (delayed muscle relaxation after contraction)
electromyography shows myotonic discharges
wasting, especially temporal, neck, and facial muscles
respiratory distress (congenital form)
more
Skin Nails Hair Hair:
frontal balding (male pattern baldness)

Prenatal Manifestations Movement:
reduced fetal movements (congenital form)

Head And Neck Eyes:
cataract

Abdomen Biliary Tract:
cholelithiasis

Neurologic Central Nervous System:
excessive daytime sleepiness
cerebral atrophy
mild cognitive deterioration in adults
speech disability
reduced sleep latency
more
Genitourinary Internal Genitalia Female:
uncoordinated uterine contraction

Neurologic Behavioral Psychiatric Manifestations:
avoidant personality traits
obsessive-compulsive traits
passive-aggressive traits

Prenatal Manifestations Amniotic Fluid:
polyhydramnios (congenital form)

Clinical features from OMIM:

160900

UMLS symptoms related to Myotonic Dystrophy 1:


excessive daytime somnolence, weakness

MGI Mouse Phenotypes related to Myotonic Dystrophy 1:

45 (showing 1, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.28 ATP2A1 CLCN1 DMPK ERCC6 MBNL1 MBNL2

Drugs & Therapeutics for Myotonic Dystrophy 1

Drugs for Myotonic Dystrophy 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 56, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 2, Phase 3 51-61-6, 62-31-7 681
2
Methylphenidate Approved, Investigational Phase 2, Phase 3 113-45-1 4158
3
Lamotrigine Approved, Investigational Phase 3 84057-84-1 3878
4
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
5
Dehydroepiandrosterone Approved, Investigational, Nutraceutical Phase 2, Phase 3 53-43-0 9860744
6 Dopamine Uptake Inhibitors Phase 2, Phase 3
7 Neurotransmitter Agents Phase 2, Phase 3
8 Dopamine Agents Phase 2, Phase 3
9 Sodium Channel Blockers Phase 3
10 Diuretics, Potassium Sparing Phase 3
11 Tranquilizing Agents Phase 3
12 Antipsychotic Agents Phase 3
13 Psychotropic Drugs Phase 3
14 Anticonvulsants Phase 3
15 Calcium, Dietary Phase 3
16 calcium channel blockers Phase 3
17 Central Nervous System Depressants Phase 3
18 Hormones Phase 3
19 Adjuvants, Immunologic Phase 2, Phase 3
20 DHEA (Dehydroepiandrosterone) Phase 2, Phase 3
21 Immunologic Factors Phase 2, Phase 3
22
Zinc Approved, Investigational Phase 2 7440-66-6 32051
23
Mexiletine Approved, Investigational Phase 2 31828-71-4 4178
24
Mecasermin Approved, Investigational Phase 1, Phase 2 68562-41-4
25
Clarithromycin Approved Phase 2 81103-11-9 84029
26 Hypoglycemic Agents Phase 2
27 Complement Factor I Phase 2
28 Anti-Arrhythmia Agents Phase 2
29 Mitogens Phase 1, Phase 2
30 insulin Phase 1, Phase 2
31 Insulin, Globin Zinc Phase 1, Phase 2
32 Anti-Infective Agents Phase 2
33 Cytochrome P-450 CYP3A Inhibitors Phase 2
34 Cytochrome P-450 Enzyme Inhibitors Phase 2
35 Anti-Bacterial Agents Phase 2
36 Antibiotics, Antitubercular Phase 2
37
Ranolazine Approved, Investigational Phase 1 95635-55-5, 142387-99-3 56959
38
Modafinil Approved, Investigational 68693-11-8 4236
39
Fibrinolysin Investigational 9004-09-5
40 Immunoglobulins
41 Antibodies
42 Antibodies, Antinuclear
43 Plasminogen Activator Inhibitor 1
44 Hemostatics
45 Liver Extracts
46 Plasminogen Inactivators
47 Lupus Coagulation Inhibitor
48 alpha-2-Antiplasmin
49 Anticoagulants
50 Plasminogen
51 Coagulants
52 Pigment epithelium-derived factor
53 Antifibrinolytic Agents
54 Cola
55 Central Nervous System Stimulants
56 Cytochrome P-450 CYP3A Inducers

Interventional clinical trials:

(showing 60, show less)
# Name Status NCT ID Phase Drugs
1 Evaluation of Arrhythmic Risk in Myotonic Dystrophy Type I (DM 1) Unknown status NCT00127582 Phase 3
2 Study of Efficacy and Tolerance of Early Launching of Nocturnal Non Invasive Ventilation in Adults With Myotonic Dystrophy Type 1(DM1) Unknown status NCT01225614 Phase 3
3 Phase 2/3 Study of Efficacy and Tolerability of Methylphenidate in the Treatment of Excessive Daytime Sleepiness in Myotonic Dystrophy Type 1 Completed NCT01421992 Phase 2, Phase 3 Methylphenidate;Placebo
4 Lamotrigine as Treatment of Myotonia - a Phase 3 Randomized Controlled Trial Study Completed NCT01939561 Phase 3 Lamotrigine;Placebo
5 Phase 3 Study of Oral Dehydroepiandrosterone (DHEA) in Adults With Myotonic Dystrophy Completed NCT00167609 Phase 2, Phase 3 dehydroepiandrosterone 100 and 400 mg
6 A Randomized, Double-Blind Study to Evaluate the Efficacy and Safety of Tideglusib Versus Placebo for the Treatment of Children and Adolescents With Congenital Myotonic Dystrophy Not yet recruiting NCT03692312 Phase 2, Phase 3 Tideglusib;Placebo
7 A Placebo Controlled, Randomized, Double-Blind Phase II Clinical Trial to Evaluate Tolerability, Safety and Efficacy Endpoints After Administration of Recombinant Human Insulin-Like Growth Factor-I/Recombinant Human Insulin-Like Growth Factor Binding Protein-3 (rhIGF-I/rhIGFBP-3) for 24 Weeks in Adults With Myotonic Dystrophy Type 1 Unknown status NCT00577577 Phase 2 rhIGF-I/rhIGFBP-3;placebo
8 A Randomized, Placebo Controlled, Clinical Efficacy Trial of Mexiletine for Myotonic Dystrophy Type-1 (DM1) Completed NCT01406873 Phase 2 Mexiletine;Placebo
9 A Phase 1/2a Blinded, Placebo-Controlled Study to Assess the Safety, Tolerability, and Dose-range Finding of Multiple Ascending Doses of ISIS 598769 Administered Subcutaneously to Adult Patients With Myotonic Dystrophy Type 1 Completed NCT02312011 Phase 1, Phase 2 IONIS-DMPKRx;Placebo
10 Effects of SomatoKine (Iplex) (rhIGF-I/rhIGFBP-3) in Myotonic Dystrophy Type 1 (DM1) Completed NCT00233519 Phase 1, Phase 2 SomatoKine/IPLEX
11 A Single-Blind, Phase 2 Study To Evaluate The Safety And Efficacy Of Tideglusib 400mg Or 1000mg For The Treatment Of Adolescent And Adult Congenital And Juvenile-Onset Myotonic Dystrophy Completed NCT02858908 Phase 2 Tideglusib
12 Antibiotic-mediated Improvements in Vigilance: Mechanisms of Action of Clarithromycin in Hypersomnia Syndromes Recruiting NCT04026958 Phase 2 Clarithromycin;Placebo
13 Intramuscular Transplantation of Autologous Muscle Derived Stem Cell(MDSC) and Adipose Derived Mesenchymal Stem Cells (AD-MSC) in Patients With Facioscapulohumeral Dystrophy (FSHD), Phase I Clinical Trial Unknown status NCT02208713 Phase 1
14 Phase 1 Study to Determine the Efficacy of Using Far Infrared Radiation to Manage or Treat Muscular Dystrophies. Unknown status NCT00674843 Phase 1
15 Open Label Trial of Ranolazine in Myotonia Congenita, Paramyotonia Congenita, & Myotonic Dystrophy Type 1 Completed NCT02251457 Phase 1 Ranolazine
16 Double-Blind, Placebo-Controlled, Dose-Range-Finding, Crossover Trial of Single Day Administration of ERX-963 in Adults With Myotonic Dystrophy Type 1 Recruiting NCT03959189 Phase 1 ERX-963;Placebo
17 Sleep Breathing Disorders, a Main Trigger for Cardiac ARythmias in Type I Myotonic Dystrophy ? Unknown status NCT02375087
18 Defining and Managing the Neuropsychological Abnormalities of Myotonic Dystrophy Unknown status NCT02269865
19 Function, Structure and Quality of Striated Muscles in Patients With Muscular Diseases - an MRI Study on Pompe Disease and Dystrophia Myotonica Unknown status NCT02708784
20 Validation of a German Language Screening Questionnaire for Symptoms of Respiratory Muscle Weakness and Sleep-disordered Breathing in Patients With Neuromuscular Disorders Unknown status NCT02833168
21 Four Weeks Withdrawal of Non-invasive Ventilation (NIV) in Patients With Myotonic Dystrophy: Cardiovascular, Metabolic and Daytime Vigilance Induced Changes Unknown status NCT00745238
22 NON-INVASIVE PRENATAL TESTING (NIPT) OF FETAL SINGLE-GENE DISORDERS IN MATERNAL BLOOD Unknown status NCT02339402
23 Effects of a 12-week Strength Training Program in Men With Myotonic Dystrophy Type 1 Completed NCT04018820
24 Effects of a Multiple Component Training Program on Muscles, Maximal Muscle Strength, Endurance and Functional Performance in Adults With Myotonic Dystrophy Type 1: A Pilot Study Completed NCT04001920
25 Tracking the Brain in Myotonic Dystrophies: a 5-year Longitudinal Follow-up Study Completed NCT02729597
26 Cardiac and Respiratory Prognostic Factors in Patients With Myotonic Dystrophy Type 1 Completed NCT01136330
27 A Multicenter Observational Study to Assess the Variability of Molecular Biomarkers and Clinical Measures in Patients With Myotonic Dystrophy Type 1 Completed NCT02308657
28 Prospective Randomized Controlled Single Blind Study of Efficacy and Tolerance of AVAPS Mode Compared to Bilevel Pressure Ventilation un Adult Patients With Myotonic Dystrophy Completed NCT01530841
29 Lung Function Impairment and Postural Spirometry Changes in Ambulatory Myotonic Dystrophy Patients Completed NCT01242007
30 Brain Involvement in Myotonic Dystrophy Type I: From Functional Neuroimaging to the Impact on Quality of Life Completed NCT03589677
31 Observational Prolonged Trial in Myotonic Dystrophy Type 1 to Improve Quality of Life Standards, a Target Identification Collaboration Completed NCT02118779
32 A Registry of Arrhythmias in Myotonic Muscular Dystrophy Completed NCT00622453
33 Incidence and Predictors of Venous Thromboembolism in Myotonic Dystrophy Completed NCT03141749
34 Myotonic Dystrophy:Muscle Wasting and Altered Metabolism Completed NCT00004769
35 Pulmonary Hypertension--Mechanisms and Family Registry Completed NCT00005357
36 Repolarization Disorders and Heart Conduction Disorders in Patients With Systemic Lupus Erythematous Completed NCT02162992
37 Development of a New Scale of Quality of Life, Specific of Neuro Muscular Diseases and More Specifically of Steinert Disease, by the Rasch Model Methods. Completed NCT02895763
38 The UK National Registry for Myotonic Dystrophy Recruiting NCT04003363
39 Trial Readiness and Endpoint Assessment in Congenital Myotonic Dystrophy Recruiting NCT03059264
40 Effect of Noninvasive Mechanical Ventilation on Ventilatory Response in Patients With Myotonic Dystrophy Type 1 Recruiting NCT02880735
41 Establishing Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1) Recruiting NCT03981575
42 The Electrophysiological Study Guided ICD Strategy in Prevention of Arrhythmic Cardiac Death in Myotonic Dystrophy Type 1 Patients With Conduction System Disease (ACADEMY 1 Study) Recruiting NCT03784586
43 Venous Thromboembolism in Myotonic Dystrophy Type 1 Recruiting NCT03424460
44 Non Invasive Prenatal Diagnosis on Isolated Circulating Fetal Trophoblastic Cells (CFTC) for Triplet Repeat Diseases Recruiting NCT03087526
45 Functional and Cellular Benefits of Aerobic Exercise in Myotonic Dystrophy Type 1 Patients Recruiting NCT04187482
46 Assessing Clinical Endpoint and Biomarkers in Myotonic Dystrophy Type-1 and Type-2 Recruiting NCT03867435
47 Observational Trial in Myotonic Dystrophy Type 2 to Define Specific Clinical Outcome Measures Recruiting NCT03603171
48 Factors Associated With Hypoventilation in the Myotonic Dystrophy, Progressive Profile Over 5 Years Recruiting NCT03764150
49 Myotonic Dystrophy Family Registry Recruiting NCT02398786
50 National Registry of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Patients and Family Members Recruiting NCT00082108
51 A Multi-Site Tissue Repository Providing Annotated Biospecimens for Approved Investigator-Directed Biomedical Research Initiatives Recruiting NCT01931644
52 Myotonic Dystrophy Type 1 (DM1) Deep Phenotyping to Improve Delivery of Personalized Medicine and Assist in the Planning, Design and Recruitment of Clinical Trials Active, not recruiting NCT02831504
53 Muscle Relaxation Properties in Myopathies With Positive Muscle Phenomena: a Study Using Transcranial Magnetic Stimulation Enrolling by invitation NCT03211923
54 Derivation of Human Induced Pluripotent Stem (iPS) Cells to Heritable Cardiac Arrhythmias (Long QT Syndrome, Brugada Syndrome, CPVT and Early Repolarization Syndrome) Enrolling by invitation NCT02413450
55 DM-IMT - Controlled, Randomized, Three-arm Intervention Study on the Safety and Efficacy of Regular Respiratory Muscle Training in Patients With Myotonic Dystrophy Type 1 Not yet recruiting NCT04052958
56 Compare Train and 3D-4D Left Ventricular Systolic Function in Subjects Suffering From Dystrophy and Healthy Subjects Terminated NCT02930408
57 Development of New Prenatal Diagnostic Tests From Maternal Blood Terminated NCT00314691
58 European Home Mechanical Ventilation Registry Terminated NCT02315339
59 Pilot and Feasibility Study of Modafinil Treatment to Improve Cognitive Efficiency in SLE Patients Terminated NCT00297284 Modafinil
60 Identity Development in Youth With Neuromuscular Diseases: A Clinically Relevant But Forgotten Issue in the Transition to Adulthood Withdrawn NCT03775135

Search NIH Clinical Center for Myotonic Dystrophy 1

Cochrane evidence based reviews: myotonic dystrophy

Genetic Tests for Myotonic Dystrophy 1

Genetic tests related to Myotonic Dystrophy 1:

# Genetic test Affiliating Genes
1 Steinert Myotonic Dystrophy Syndrome 29 DMPK

Anatomical Context for Myotonic Dystrophy 1

MalaCards organs/tissues related to Myotonic Dystrophy 1:

40
Heart, Skeletal Muscle, Thyroid, Brain, Lung, Eye, Smooth Muscle

Publications for Myotonic Dystrophy 1

Articles related to Myotonic Dystrophy 1:

(showing 525, show less)
# Title Authors PMID Year
1
Paternal transmission of the congenital form of myotonic dystrophy type 1: a new case and review of the literature. 54 24 56
11807903 2002
2
A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)n repeat. 56 6
8595416 1995
3
Mexiletine is an effective antimyotonia treatment in myotonic dystrophy type 1. 24 56
20439846 2010
4
Clinical characteristics of myotonic dystrophy type 1 patients with small CTG expansions. 24 56
16636244 2006
5
Anatomy of a founder effect: myotonic dystrophy in Northeastern Quebec. 24 56
15883838 2005
6
Leukocyte CTG repeat length correlates with severity of myotonia in myotonic dystrophy type 1. 24 56
15079005 2004
7
A muscleblind knockout model for myotonic dystrophy. 24 56
14671308 2003
8
Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy. 24 56
12150905 2002
9
Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. 24 56
11528389 2001
10
Frequency and stability of the myotonic dystrophy type 1 premutation. 24 56
11171897 2001
11
Personality patterns in patients with myotonic dystrophy. 24 56
9605719 1998
12
Patients with primary cataract as a genetic pool of DMPK protomutation. 61 56
17146587 2007
13
Similar brain tau pathology in DM2/PROMM and DM1/Steinert disease. 61 56
16301494 2005
14
Six5 is required for spermatogenic cell survival and spermiogenesis. 61 56
15163633 2004
15
[Spreading of the gene for myotonic dystrophy in Saguenay (Quebec)]. 61 56
3411303 1988
16
RNA phase transitions in repeat expansion disorders. 56
28562589 2017
17
CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy. 56
28257691 2017
18
Myotonic dystrophies type 1 and 2: anesthetic care. 61 24
23384336 2013
19
Targeting nuclear RNA for in vivo correction of myotonic dystrophy. 56
22859208 2012
20
Muscle weakness in myotonic dystrophy associated with misregulated splicing and altered gating of Ca(V)1.1 calcium channel. 56
22140091 2012
21
Aberrant splicing and expression of the non muscle myosin heavy-chain gene MYH14 in DM1 muscle tissues. 56
21872659 2012
22
Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland. 56
21364698 2011
23
Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy. 56
21623381 2011
24
Methylation of the CpG sites in the myotonic dystrophy locus does not correlate with CTG expansion size or with the congenital form of the disease. 56
20644219 2010
25
CUGBP1 overexpression in mouse skeletal muscle reproduces features of myotonic dystrophy type 1. 56
20603324 2010
26
Heart-specific overexpression of CUGBP1 reproduces functional and molecular abnormalities of myotonic dystrophy type 1. 56
20051426 2010
27
Intergenerational contraction of the CTG repeats in 2 families with myotonic dystrophy type 1. 56
20018643 2009
28
Neuroimaging in myotonic dystrophy type 1. 56
19949042 2009
29
Triplet-repeat oligonucleotide-mediated reversal of RNA toxicity in myotonic dystrophy. 56
19667189 2009
30
Reversal of RNA dominance by displacement of protein sequestered on triplet repeat RNA. 56
19608921 2009
31
Highly unstable sequence interruptions of the CTG repeat in the myotonic dystrophy gene. 56
19514047 2009
32
Transcriptional and post-transcriptional impact of toxic RNA in myotonic dystrophy. 56
19223393 2009
33
The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patients. 56
18611984 2008
34
Electrocardiographic abnormalities and sudden death in myotonic dystrophy type 1. 56
18565861 2008
35
Aberrantly spliced alpha-dystrobrevin alters alpha-syntrophin binding in myotonic dystrophy type 1. 56
18299519 2008
36
RNA toxicity in myotonic muscular dystrophy induces NKX2-5 expression. 56
18084293 2008
37
The hypocretin neurotransmission system in myotonic dystrophy type 1. 56
18195268 2008
38
Molecular mechanisms responsible for aberrant splicing of SERCA1 in myotonic dystrophy type 1. 56
17728322 2007
39
Correction of ClC-1 splicing eliminates chloride channelopathy and myotonia in mouse models of myotonic dystrophy. 56
18008009 2007
40
DMPK-associated myotonic dystrophy and CTG repeats in Alabama African Americans. 56
17877752 2007
41
Elevation of RNA-binding protein CUGBP1 is an early event in an inducible heart-specific mouse model of myotonic dystrophy. 56
17823658 2007
42
Homozygous myotonic dystrophy: clinical findings in two patients and review of the literature. 56
17663477 2007
43
Cardiovascular manifestations of myotonic dystrophy-1. 61 24
17575483 2007
44
Flies deficient in Muscleblind protein model features of myotonic dystrophy with altered splice forms of Z-band associated transcripts. 56
16927100 2006
45
Reversal of fortune. 56
16941004 2006
46
Reversible model of RNA toxicity and cardiac conduction defects in myotonic dystrophy. 56
16878132 2006
47
Pilomatricoma in childhood: a retrospective study from three European paediatric centres. 61 24
16041525 2005
48
Myotonic dystrophy. 56
16087777 2005
49
Altered mRNA splicing of the skeletal muscle ryanodine receptor and sarcoplasmic/endoplasmic reticulum Ca2+-ATPase in myotonic dystrophy type 1. 56
15972723 2005
50
Aerobic training in patients with myotonic dystrophy type 1. 56
15852373 2005
51
Characterization of the pattern of cognitive impairment in myotonic dystrophy type 1. 56
15596617 2004
52
Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons. 56
15496431 2004
53
Severe cardiac arrhythmias in young patients with myotonic dystrophy type 1. 56
15557517 2004
54
Myotonic dystrophy--no evidence for preferential transmission of the mutated allele: a prenatal analysis. 56
15103717 2004
55
RNA leaching of transcription factors disrupts transcription in myotonic dystrophy. 56
14657503 2004
56
Prevalence of myotonic dystrophy in Israeli Jewish communities: inter-community variation and founder premutations. 56
12784291 2003
57
DNA triplet repeats mediate heterochromatin-protein-1-sensitive variegated gene silencing. 56
12712207 2003
58
Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells. 56
12217958 2002
59
Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing. 56
12150906 2002
60
The myotonic dystrophy expanded CUG repeat tract is necessary but not sufficient to disrupt C2C12 myoblast differentiation. 56
11555624 2001
61
Defective satellite cells in congenital myotonic dystrophy. 56
11590125 2001
62
Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1. 56
11590131 2001
63
Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2. 56
11590133 2001
64
Haplotype analysis of the myotonic dystrophy type 1 (DM1) locus in Taiwan: implications for low prevalence and founder mutations of Taiwanese myotonic dystrophy type 1. 56
11528511 2001
65
CTCF-binding sites flank CTG/CAG repeats and form a methylation-sensitive insulator at the DM1 locus. 56
11479593 2001
66
Epidemiology of myotonic dystrophy in Italy: re-apprisal after genetic diagnosis. 56
11359466 2001
67
"Mitotic drive" of expanded CTG repeats in myotonic dystrophy type 1 (DM1). 56
11285251 2001
68
Mouse tissue culture models of unstable triplet repeats: in vitro selection for larger alleles, mutational expansion bias and tissue specificity, but no association with cell division rates. 56
11285250 2001
69
Does (CUG)n repeat in DMPK mRNA 'paint' chromosome 19 to suppress distant genes to create the diverse phenotype of myotonic dystrophy?: A new hypothesis of long-range cis autosomal inactivation. 56
11354827 2001
70
The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing. 56
11158314 2001
71
Natural history of cardiac involvement in myotonic dystrophy: correlation with CTG repeats. 56
11071501 2000
72
Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat. 56
10976074 2000
73
Skeletal muscle sodium channel gating in mice deficient in myotonic dystrophy protein kinase. 56
11001935 2000
74
Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy. 56
10970838 2000
75
Myotonic dystrophy: the role of the CUG triplet repeats in splicing of a novel DMPK exon and altered cytoplasmic DMPK mRNA isoform ratios. 56
10911990 2000
76
Mice deficient in Six5 develop cataracts: implications for myotonic dystrophy. 56
10802667 2000
77
Heterozygous loss of Six5 in mice is sufficient to cause ocular cataracts. 56
10802668 2000
78
Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability. 56
10767343 2000
79
Cis and trans effects of the myotonic dystrophy (DM) mutation in a cell culture model. 56
10484765 1999
80
Myotonic Dystrophy Type 1 6
20301344 1999
81
Left ventricular diastolic function in congenital myotonic dystrophy. 56
10325709 1999
82
Brain proton magnetic resonance spectroscopy and brain atrophy in myotonic dystrophy. 56
10190823 1999
83
Myotonic dystrophy: the role of RNA CUG triplet repeats. 56
9973273 1999
84
Myotonic dystrophy in Ancient Egypt. 56
10023106 1999
85
Myotonic dystrophy: the correlation of (CTG) repeat length in leucocytes with age at onset is significant only for patients with small expansions. 56
9950368 1999
86
Different patterns of obstetric complications in myotonic dystrophy in relation to the disease status of the fetus. 56
9856556 1998
87
Segregation distortion in myotonic dystrophy. 56
9863607 1998
88
CTG repeats show bimodal amplification in E. coli. 56
9827805 1998
89
Somatic instability of the CTG repeat in mice transgenic for the myotonic dystrophy region is age dependent but not correlated to the relative intertissue transcription levels and proliferative capacities. 56
9668171 1998
90
A global haplotype analysis of the myotonic dystrophy locus: implications for the evolution of modern humans and for the origin of myotonic dystrophy mutations. 56
9585589 1998
91
Relative stability of a minimal CTG repeat expansion in a large kindred with myotonic dystrophy. 56
9596022 1998
92
Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. 56
9563950 1998
93
Congenital myotonic dystrophy requiring prolonged endotracheal and noninvasive assisted ventilation: not a uniformly fatal condition. 56
9521960 1998
94
Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients. 56
9425239 1998
95
The DMPK gene of severely affected myotonic dystrophy patients is hypermethylated proximal to the largely expanded CTG repeat. 56
9463318 1998
96
Further evidence for a major ancient mutation underlying myotonic dystrophy from linkage disequilibrium studies in the Japanese population. 56
9852676 1998
97
Altered phosphorylation and intracellular distribution of a (CUG)n triplet repeat RNA-binding protein in patients with myotonic dystrophy and in myotonin protein kinase knockout mice. 56
9371827 1997
98
Paternal transmission of congenital myotonic dystrophy. 56
9391889 1997
99
Myotonic dystrophy protein kinase is involved in the modulation of the Ca2+ homeostasis in skeletal muscle cells. 56
9294109 1997
100
Trinucleotide repeat expansion at the myotonic dystrophy locus reduces expression of DMAHP. 56
9241282 1997
101
Expansion of the myotonic dystrophy CTG repeat reduces expression of the flanking DMAHP gene. 56
9241283 1997
102
Cranial MRI findings in myotonic dystrophy. 56
9106286 1997
103
Dominance and homozygosity. 56
9021013 1997
104
Moderate intergenerational and somatic instability of a 55-CTG repeat in transgenic mice. 56
9020847 1997
105
Hypermutable myotonic dystrophy CTG repeats in transgenic mice. 56
9020848 1997
106
Identification of a (CUG)n triplet repeat RNA-binding protein and its expression in myotonic dystrophy. 56
8948631 1996
107
Analysis of meiotic segregation, using single-sperm typing: meiotic drive at the myotonic dystrophy locus. 56
8808606 1996
108
Homozygous myotonic dystrophy: clinical and molecular studies of three unrelated cases. 56
8880582 1996
109
Founder effect and prevalence of myotonic dystrophy in South Africans: molecular studies. 56
8755933 1996
110
Abnormal myotonic dystrophy protein kinase levels produce only mild myopathy in mice. 56
8673131 1996
111
Mice lacking the myotonic dystrophy protein kinase develop a late onset progressive myopathy. 56
8673132 1996
112
Association of CTG repeats and the 1-kb Alu insertion/deletion polymorphism at the myotonin protein kinase gene in the Japanese population suggests a common Eurasian origin of the myotonic dystrophy mutation. 56
8566943 1996
113
Distribution and evolution of CTG repeats at the myotonin protein kinase gene in human populations. 56
8919693 1996
114
Ethnicity and myotonic dystrophy: a possible explanation for its absence in sub-Saharan Africa. 56
8835099 1996
115
Myotonic dystrophy: will the real gene please step forward! 56
8875246 1996
116
Mitochondrial DNA does not appear to influence the congenital onset type of myotonic dystrophy. 56
8544195 1995
117
Cardiac involvement in a large kindred with myotonic dystrophy. Quantitative assessment and relation to size of CTG repeat expansion. 56
7650805 1995
118
Comparison of CTG repeat length expansion and clinical progression of myotonic dystrophy over a five year period. 56
7473648 1995
119
Triplet repeat expansion in myotonic dystrophy alters the adjacent chromatin structure. 56
7777532 1995
120
New founder haplotypes at the myotonic dystrophy locus in southern Africa. 56
7762560 1995
121
De novo myotonic dystrophy mutation in a Nigerian kindred. 56
7726160 1995
122
Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation. 56
7543316 1995
123
Discordant clinical outcome in myotonic dystrophy relatives showing (CTG)n > 700 repeats. 56
7767095 1995
124
Myotonic dystrophy: genetic, clinical, and molecular analysis of patients from 41 Brazilian families. 56
7897620 1995
125
Brain disease and molecular analysis in myotonic dystrophy. 56
7696601 1994
126
Non-immune hydrops fetalis associated with impaired fetal movement: a case report and review. 56
7856661 1994
127
Presentation, clinical course, and outcome of the congenital form of myotonic dystrophy. 56
7880334 1994
128
Brain involvement in myotonic dystrophy: MRI features and their relationship to clinical and cognitive conditions. 56
7847063 1994
129
Anticipation resulting in elimination of the myotonic dystrophy gene: a follow up study of one extended family. 56
7815415 1994
130
Paternal transmission of congenital myotonic dystrophy. 56
7966187 1994
131
Additive influence of maternal and offspring DM-kinase gene CTG repeat lengths in the genesis of congenital myotonic dystrophy. 56
8198135 1994
132
A case of paternally inherited congenital myotonic dystrophy. 56
8064819 1994
133
Intelligence quotient profile in myotonic dystrophy, intergenerational deficit, and correlation with CTG amplification. 56
8071955 1994
134
Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm. 56
8128954 1994
135
Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy. 56
8116611 1994
136
Myotonic dystrophy with no trinucleotide repeat expansion. 56
8122879 1994
137
Meiotic drive at the myotonic dystrophy locus? 56
8162064 1994
138
Absence of myotonic dystrophy in southern African Negroids is associated with a significantly lower number of CTG trinucleotide repeats. 56
8151635 1994
139
French myotonic dystrophy families show expansion of a CTG repeat in complete linkage disequilibrium with an intragenic 1 kb insertion. 56
8151634 1994
140
North Eurasian origin of the myotonic dystrophy mutation. 56
7951264 1994
141
High resolution genetic analysis suggests one ancestral predisposing haplotype for the origin of the myotonic dystrophy mutation. 56
7909252 1994
142
Myotonic dystrophy kinase is a component of neuromuscular junctions. 56
8281152 1993
143
DNA confirmation of congenital myotonic dystrophy in non-immune hydrops fetalis. 56
8140064 1993
144
The myotonic dystrophy gene. 56
8215976 1993
145
Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM). 56
8213829 1993
146
Larger expansions of the CTG repeat in muscle compared to lymphocytes from patients with myotonic dystrophy. 56
8242063 1993
147
No imprinting involved in the expression of DM-kinase mRNAs in mouse and human tissues. 56
8401505 1993
148
Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy. 56
8503448 1993
149
Negative expansion of the myotonic dystrophy unstable sequence. 56
8503449 1993
150
Molecular diagnosis of homozygous myotonic dystrophy in two asymptomatic sisters. 56
8353490 1993
151
Origin of the expansion mutation in myotonic dystrophy. 56
8513329 1993
152
Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism. 56
8098180 1993
153
Retreat of the triplet repeat? 56
7981744 1993
154
Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy. 56
8469976 1993
155
Brief report: reverse mutation in myotonic dystrophy. 56
8421477 1993
156
Direct diagnosis of myotonic dystrophy with a disease-specific DNA marker. 56
8421476 1993
157
Fertility in myotonic dystrophy in Saguenay-Lac-St-Jean: a historical perspective. 56
1486700 1992
158
Intestinal pseudo-obstruction in myotonic dystrophy. 56
1453429 1992
159
Phenotypic expression of the myotonic dystrophy gene in monozygotic twins. 56
1513473 1992
160
Five years experience of predictive testing for myotonic dystrophy using linked DNA markers. 56
1415325 1992
161
Anticipation legitimized: unstable DNA to the rescue. 56
1609807 1992
162
Anticipation in myotonic dystrophy: new light on an old problem. 56
1609789 1992
163
Genetic risks for children of women with myotonic dystrophy. 56
1530708 1992
164
Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy. 56
1303233 1992
165
Linkage disequilibrium detected between myotonic dystrophy and the anonymous marker D19S63 in the Spanish population. 56
1351033 1992
166
Heritable unstable DNA sequences. 56
1302002 1992
167
Expansion of unstable DNA region in Japanese myotonic dystrophy patients. 56
1347397 1992
168
Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene. 56
1546325 1992
169
An unstable triplet repeat in a gene related to myotonic muscular dystrophy. 56
1546326 1992
170
Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member. 56
1310900 1992
171
Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. 56
1346923 1992
172
Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. 56
1346924 1992
173
Cloning of the essential myotonic dystrophy region and mapping of the putative defect. 56
1346925 1992
174
Diagnostic value of ophthalmologic findings in myotonic dystrophy: comparison with risks calculated by haplotype analysis of closely linked restriction fragment length polymorphisms. 56
1364051 1992
175
Mitochondrial DNA sequence analysis in congenital myotonic dystrophy. 56
1763896 1991
176
Ethnic distribution of myotonic dystrophy gene. 56
1679186 1991
177
Detection of linkage disequilibrium between the myotonic dystrophy locus and a new polymorphic DNA marker. 56
2063878 1991
178
Genetic risks for children of women with myotonic dystrophy. 56
2035529 1991
179
Localisation of the myotonic dystrophy locus to 19q13.2-19q13.3 and its relationship to twelve polymorphic loci on 19q. 56
2037285 1991
180
Assessment of a creatine kinase isoform M defect as a cause of myotonic dystrophy and the characterization of two novel CKMM polymorphisms. 56
2016086 1991
181
Identification of variable simple sequence motifs in 19q13.2-qter: markers for the myotonic dystrophy locus. 56
1840564 1991
182
Genetic linkage with chromosome 19 but not chromosome 17 in a family with myotonic dystrophy associated with hereditary motor and sensory neuropathy. 56
1985299 1991
183
Hereditary disorders in Saguenay-Lac-St-Jean (Quebec, Canada). 56
1937486 1991
184
Linkage relationships of the apolipoprotein C1 gene and a cytochrome P450 gene (CYP2A) to myotonic dystrophy. 56
1975560 1990
185
The human ryanodine receptor gene: its mapping to 19q13.1, placement in a chromosome 19 linkage group, and exclusion as the gene causing myotonic dystrophy. 56
1971150 1990
186
Genealogical reconstruction of myotonic dystrophy in the Saguenay-Lac-Saint-Jean area (Quebec, Canada). 56
2330114 1990
187
Tight linkage of creatine kinase (CKMM) to myotonic dystrophy on chromosome 19. 56
2300239 1990
188
Presymptomatic exclusion of myotonic dystrophy in a one-generation pedigree of half-siblings. 56
2265856 1990
189
Recombination events that locate myotonic dystrophy distal to APOC2 on 19q. 56
2591962 1989
190
A multipoint linkage map around the locus for myotonic dystrophy on chromosome 19. 56
2575588 1989
191
Linkage studies of Myotonia congenita and Paramyotonia congenita. 56
2766573 1989
192
Myotonic dystrophy is closely linked to the gene for muscle-type creatine kinase (CKMM). 56
2703233 1989
193
Linkage analysis of the apolipoprotein C2 gene and myotonic dystrophy on human chromosome 19 reveals linkage disequilibrium in a French-Canadian population. 56
2562820 1989
194
Tight linkage between myotonic dystrophy and apolipoprotein E genes revealed with allele-specific oligonucleotides. 56
3417303 1988
195
The use of apolipoprotein CII as a genetic marker for myotonic dystrophy. 56
2881531 1987
196
Three-point linkage analysis employing C3 and 19cen markers assigns the myotonic dystrophy gene to 19q. 56
2881880 1987
197
A new probe for the diagnosis of myotonic muscular dystrophy. 56
3029876 1987
198
Myotonic dystrophy. A reassessment by conventional and more recently introduced neurophysiological techniques. 56
3790977 1986
199
Myotonic dystrophy associated with hereditary motor and sensory neuropathy. 56
3466660 1986
200
Linkage relationships of the insulin receptor gene with the complement component 3, LDL receptor, apolipoprotein C2 and myotonic dystrophy loci on chromosome 19. 56
2877934 1986
201
Tight linkage of apolipoprotein C2 to myotonic dystrophy on chromosome 19. 56
3762959 1986
202
The development of human linkage analysis. 56
3327446 1986
203
RFLPs at the D19S19 locus of human chromosome 19 linked to myotonic dystrophy (DM). 56
3016653 1986
204
Gene mapping and chromosome 19. 56
3081724 1986
205
Cardiac involvement in myotonic muscular dystrophy. 56
4058303 1985
206
Myotonic dystrophy. Part I. A genealogical study in the northern Transvaal. 56
3992413 1985
207
Gastroparesis in neonatal myotonic dystrophy. 56
6543902 1984
208
Myotonic dystrophy and autosomal balanced translocation t(2;20)(p21;q11). 56
6723105 1984
209
Families with myotonic dystrophy with and without cardiac involvement. 56
6639233 1983
210
Genetics and linkage relationships of the C3 polymorphism: discovery of C3-Se linkage and assignment of LES-C3-DM-Se-PEPD-Lu synteny to chromosome 19. 56
6627719 1983
211
Linkage analysis of myotonic dystrophy and sequences on chromosome 19 using a cloned complement 3 gene probe. 56
6620325 1983
212
Genetic linkage between the loci for myotonic dystrophy and peptidase D. 56
6881909 1983
213
Myotonic dystrophy: limited electromyographic abnormalities in 2 definite cases. 56
6839522 1983
214
Clinical evidence for heterogeneity in myotonic dystrophy. 56
7143387 1982
215
Myotonic muscular dystrophy. Time-dependent alterations in erythrocyte membrane fluidity. 56
6271928 1981
216
Deoxycholic acid, a candidate for the maternal intrauterine factor in early-onset myotonic dystrophy. 56
6112421 1981
217
Cultured muscle from myotonic muscular dystrophy patients: altered membrane electrical properties. 56
6941262 1981
218
Amniotic fluid secretor typing: validation for use in prenatal prediction of myotonic dystrophy. 56
6449321 1980
219
Immunoglobulin concentration and Gm allotypes in a family with thirty-three cases of myotonic dystrophy. 56
7418249 1980
220
Myotonic muscular dystrophy: defective phospholipid metabolism in the erythrocyte plasma membrane. 56
7410551 1980
221
The use of genetic linkage in counselling families with dystrophia myotonica. 56
7398118 1980
222
Myotonic dystrophy: a disease caused by functional zinc deficiency due to an abnormal zinc-binding ligand? 56
6995820 1980
223
Additions to the myotonic dystrophy linkage group. 56
466851 1979
224
Neonatal form of dystrophia myotonica. Five cases in preterm babies and a review of earlier reports. 56
475408 1979
225
Myopathology of myotonic dystrophy. A morphometric study. 56
442988 1979
226
Myotonia dystrophica with heart involvement: an electron microscopic study of skeletal, cardiac, and smooth muscle. 56
739051 1978
227
Myotonia dystrophica: obstetric complications. 56
707566 1978
228
Myotonia dystrophica: unusual features in a Labrador family. 56
630510 1978
229
Defective neutrophil function in myotonic dystrophy. 56
624959 1978
230
Are muscle fibers denervated in myotonic dystrophy? 56
938274 1976
231
Familial mitral valve prolapse and myotonic dystrophy. 56
937918 1976
232
Increased sensitivity of platelets to adrenaline in human myotonic dystrophy. 56
50512 1975
233
Myotonic dystrophy: opportunities for prenatal prediction. 56
1171415 1975
234
Phenytoin and membrane fluidity in myotonic dystrophy. 56
168843 1975
235
Cardiac conduction in myotonic dystrophy. 56
1138549 1975
236
Congenital myotonic dystrophy in Britain. II. Genetic basis. 56
1167063 1975
237
Congenital myotonic dystrophy in Britain. I. Clinical aspects. 56
1101835 1975
238
Myotonia dystrophica: Studies on gonadal function using luteinizing hormone-releasing hormone (LRH). 56
1094029 1975
239
Thin ribs in neonatal myotonic dystrophy. 56
1149312 1975
240
Plasma insulin in patients with myotonic dystrophy and their relatives. 56
4834853 1974
241
Electron spin resonance studies of erythrocytes from patients with myotonic muscular dystrophy. 56
4362637 1974
242
Prenatal prediction in myotonic dystrophy: guidelines for genetic counseling. 56
4570861 1973
243
Genetic heterogeneity for dystrophia myotonica. 56
5079102 1972
244
Early-onset dystrophia myotonica. Evidence supporting a maternal environmental factor. 56
4113301 1972
245
Genetic linkage confirmed between the locus for myotonic dystrophy and the ABH-secretion and Lutheran blood group loci. 56
5063795 1972
246
An analysis procedure illustrated on a triple linkage of use for prenatal diagnosis of myotonic dystrophy. 56
5149522 1971
247
Confirmation of linkage of the loci for myotonic dystrophy and ABH secretion. 56
5149523 1971
248
Early recognition of heterozygotes for the gene for dystrophia myotonica. 56
5431719 1970
249
Cholelithiasis and associated complications of myotonia dystrophica. 56
5352936 1969
250
Myotonic muscular dystrophy: abnormalities in fibroblast culture. 56
4182466 1969
251
Cineradiographic demonstration of pharyngeal area myotonia in myotonic dystrophy patients. 56
5762063 1969
252
Variants of myotonic dystrophy in pre-adolescent life (the syndrome of myotonic dysembryoplasia). 56
5950778 1966
253
Accelerated breakdown of immunoglobulin G (IgG) in myotonic dystrophy: a hereditary error of immunoglobulin catabolism. 56
4159450 1966
254
SYSTEMIC EFFECTS IN DYSTROPHIA MYOTONICA. 56
14215177 1964
255
[CONTRIBUTION TO THE STUDY OF ELEMENTARY LESIONS OF SKELETAL MUSCLE: ULTRASTRUCTURE OF THE ANNULAR FIBERS (OBSERVED IN DYSTROPHIA MYOTONICA)]. 56
14289079 1964
256
[Contribution to the clinical and genetic study of dystrophia myotonica (Steinert) and of myotonia congenita (Thomsen). Description of 8 families afflicted with Steinert's disease and of a recent case of Thomsen's disease]. 56
13888352 1961
257
Skull changes in eighteen cases of dystrophia myotonica. 56
13816392 1960
258
Dystrophia myotonica with special reference to Northern Ireland. 56
13435644 1957
259
The problem of anticipation in pedigrees of dystrophia myotonica. 56
18863976 1948
260
Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort. 24
31395669 2019
261
Giving voice to patients. 24
30858995 2019
262
Consensus-based care recommendations for adults with myotonic dystrophy type 1. 24
30588381 2018
263
Effect and impact of mechanical ventilation in myotonic dystrophy type 1: a prospective cohort study. 24
29572271 2018
264
Cancer phenotype in myotonic dystrophy patients: Results from a meta-analysis. 24
30028904 2018
265
Cognitive impairment and quality of life in patients with myotonic dystrophy type 1. 24
29193182 2018
266
Disruption of sleep-wake continuum in myotonic dystrophy type 1: Beyond conventional sleep staging. 24
29631952 2018
267
Development and Validation of a New Scoring System to Predict Survival in Patients With Myotonic Dystrophy Type 1. 24
29404559 2018
268
The Frequency and Risk Factors for Ischemic Stroke in Myotonic Dystrophy Type 1 Patients. 24
29306591 2018
269
Interatrial block to predict atrial fibrillation in myotonic dystrophy type 1. 24
29567351 2018
270
Falls and resulting fractures in Myotonic Dystrophy: Results from a multinational retrospective survey. 24
29361394 2018
271
Myotonic Dystrophy and Developmental Regulation of RNA Processing. 24
29687899 2018
272
Risk of skin cancer among patients with myotonic dystrophy type 1 based on primary care physician data from the U.K. Clinical Practice Research Datalink. 24
29114849 2018
273
Core Clinical Phenotypes in Myotonic Dystrophies. 24
29770119 2018
274
Longitudinal course of lung function in myotonic dystrophy type 1. 24
28181267 2017
275
Long-term follow-up of motor function and muscle strength in the congenital and childhood forms of myotonic dystrophy type 1. 24
28673557 2017
276
High frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2. 24
28855409 2017
277
Brain imaging in myotonic dystrophy type 1: A systematic review. 24
28768849 2017
278
A 9-year follow-up study of the natural progression of upper limb performance in myotonic dystrophy type 1: A similar decline for phenotypes but not for gender. 24
28527585 2017
279
Delusional and psychotic disorders in juvenile myotonic dystrophy type-1. 24
28449271 2017
280
Association Between Mutation Size and Cardiac Involvement in Myotonic Dystrophy Type 1: An Analysis of the DM1-Heart Registry. 24
28611030 2017
281
Quality of life and excessive daytime sleepiness in children and adolescents with myotonic dystrophy type 1. 24
28366348 2017
282
Incidence and predictors of sudden death, major conduction defects and sustained ventricular tachyarrhythmias in 1388 patients with myotonic dystrophy type 1. 24
27941019 2017
283
Risk for Complications after Pacemaker or Cardioverter Defibrillator Implantations in Patients with Myotonic Dystrophy Type 1. 24
28598855 2017
284
Anesthetic Management for Multiple Family Members with Myotonic Dystrophy for Interventional Cardiac Procedures-A Case Series. 24
29359132 2017
285
Preimplantation Genetic Diagnosis for Myotonic Dystrophy Type 1 and Analysis of the Effect of the Disease on the Reproductive Outcome of the Affected Female Patients. 24
29349085 2017
286
A population-based survey of risk for cancer in individuals diagnosed with myotonic dystrophy. 24
27064430 2016
287
Disease burden and functional outcomes in congenital myotonic dystrophy: A cross-sectional study. 24
27306634 2016
288
Cutaneous Neoplasms in Myotonic Dystrophy Type 1. 24
28249295 2016
289
Relative risks for comorbidities associated with myotonic dystrophy: A population-based analysis. 24
26172955 2015
290
Psychological characteristics of patients with myotonic dystrophy type 1. 24
25496310 2015
291
Myotonic dystrophy as a cause of colonic pseudoobstruction: not just another constipated child. 24
26185641 2015
292
Skin features in myotonic dystrophy type 1: an observational study. 24
25813338 2015
293
Anticipation in myotonic dystrophy type 1 parents with small CTG expansions. 24
25712547 2015
294
Myotonic dystrophy and the heart: A systematic review of evaluation and management. 24
25769007 2015
295
Myotonic dystrophies: An update on clinical aspects, genetic, pathology, and molecular pathomechanisms. 24
24882752 2015
296
Long-term arrhythmia follow-up of patients with myotonic dystrophy. 24
25546341 2015
297
Natural history of skeletal muscle involvement in myotonic dystrophy type 1: a retrospective study in 204 cases. 24
25380585 2015
298
Dysplastic nevi, cutaneous melanoma, and other skin neoplasms in patients with myotonic dystrophy type 1: a cross-sectional study. 24
25440959 2015
299
Diffuse brain abnormalities in myotonic dystrophy type 1 detected by 3.0 T proton magnetic resonance spectroscopy. 24
25824277 2015
300
Comparisons of intellectual capacities between mild and classic adult-onset phenotypes of myotonic dystrophy type 1 (DM1). 24
25424323 2014
301
Myotonic dystrophy: diagnosis, management and new therapies. 24
25121518 2014
302
Risk of cancer in relatives of patients with myotonic dystrophy: a population-based cohort study. 24
24838088 2014
303
Myotonic dystrophy. 24
25037086 2014
304
Dependent and paranoid personality patterns in myotonic dystrophy type 1. 24
24032453 2014
305
Tau exon 2 responsive elements deregulated in myotonic dystrophy type I are proximal to exon 2 and synergistically regulated by MBNL1 and MBNL2. 24
24440524 2014
306
Muscleblind-like 1 activates insulin receptor exon 11 inclusion by enhancing U2AF65 binding and splicing of the upstream intron. 24
24185704 2014
307
Prevalence of muscular dystrophies: a systematic literature review. 24
25532075 2014
308
Cognitive impairment in myotonic dystrophy type 1 is associated with white matter damage. 24
25115999 2014
309
Brain pathology in myotonic dystrophy: when tauopathy meets spliceopathy and RNAopathy. 24
24409116 2014
310
Oral motor movements and swallowing in patients with myotonic dystrophy type 1. 24
23460343 2013
311
Vitamin D, parathyroid hormone and muscle impairment in myotonic dystrophies. 24
23809192 2013
312
RNA toxicity in polyglutamine disorders: concepts, models, and progress of research. 24
23512265 2013
313
Peripheral neuropathy in patients with myotonic dystrophy type 1. 24
23336676 2013
314
Cardiac manifestations in myotonic dystrophy type 1 patients followed using a standard protocol in a specialized unit. 24
24775453 2013
315
Prevalence of lifestyle risk factors in myotonic dystrophy type 1. 24
23250126 2013
316
Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2. 24
22643181 2012
317
Myotonic dystrophy type 1, daytime sleepiness and REM sleep dysregulation. 24
22465566 2012
318
Psychiatric and cognitive phenotype of childhood myotonic dystrophy type 1. 24
22861906 2012
319
The myotonic dystrophies: molecular, clinical, and therapeutic challenges. 24
22995693 2012
320
Pregnancy course and outcome in women with hereditary neuromuscular disorders: comparison of obstetric risks in 178 patients. 24
22459654 2012
321
Endocrine function in 97 patients with myotonic dystrophy type 1. 24
22349862 2012
322
Sleep breathing disorders in 40 Italian patients with Myotonic dystrophy type 1. 24
22137426 2012
323
Electrophysiological study with prophylactic pacing and survival in adults with myotonic dystrophy and conduction system disease. 24
22453570 2012
324
Increased cancer risks in myotonic dystrophy. 24
22237010 2012
325
Feasibility and effects of a physical exercise programme in adults with myotonic dystrophy type 1: a randomized controlled pilot study. 24
21670942 2011
326
Survival and CTG repeat expansion in adults with myotonic dystrophy type 1. 24
21484823 2011
327
The reproductive outcome of female patients with myotonic dystrophy type 1 (DM1) undergoing PGD is not affected by the size of the expanded CTG repeat tract. 24
20221684 2010
328
Side effects of anesthesia in DM2 as compared to DM1: a comparative retrospective study. 24
20100232 2010
329
Visual function in congenital and childhood myotonic dystrophy type 1. 24
20346513 2010
330
Cognitive/personality pattern and triplet expansion size in adult myotonic dystrophy type 1 (DM1): CTG repeats, cognition and personality in DM1. 24
19627641 2010
331
Cognition and adaptive skills in myotonic dystrophy type 1: a study of 55 individuals with congenital and childhood forms. 24
19459914 2009
332
Oral health status in a group of children and adolescents with myotonic dystrophy type 1 over a 4-year period. 24
19732192 2009
333
What we do not know about pregnancy in hereditary neuromuscular disorders. 24
19692244 2009
334
Masticatory dysfunction in patients with myotonic dystrophy (type 1): a 5-year follow-up. 24
19740152 2009
335
Risk of arrhythmia in type I myotonic dystrophy: the role of clinical and genetic variables. 24
19237383 2009
336
Technical standards and guidelines for myotonic dystrophy type 1 testing. 24
19546810 2009
337
A polysomnographic study of daytime sleepiness in myotonic dystrophy type 1. 24
19211594 2009
338
Orthopaedic manifestations of congenital myotonic dystrophy during childhood and adolescence. 24
19352249 2009
339
A cross-sectional study for glucose intolerance of myotonic dystrophy. 24
18834994 2009
340
Cognitive impairment in myotonic dystrophy type 1 (DM1): a longitudinal follow-up study. 24
18821050 2008
341
Abnormalities of nerve conduction studies in myotonic dystrophy type 1: primary involvement of nerves or incidental coexistence? 24
18657426 2008
342
Autism spectrum conditions in myotonic dystrophy type 1: a study on 57 individuals with congenital and childhood forms. 24
18228241 2008
343
Homozygous myotonic dystrophy with craniosynostosis. 24
18474935 2008
344
Real and expected delivery rates of patients with myotonic dystrophy undergoing intracytoplasmic sperm injection and preimplantation genetic diagnosis. 24
18408243 2008
345
Myotonic dystrophy: RNA-mediated muscle disease. 24
17885447 2007
346
Ambulatory electrocardiographic monitoring in type 1 myotonic dystrophy. 24
17939583 2007
347
Early detection of biventricular involvement in myotonic dystrophy by tissue Doppler. 24
17045670 2007
348
Congenital myotonic dystrophy: prenatal ultrasound findings and pregnancy outcome. 24
17238150 2007
349
Does modafinil enhance activity of patients with myotonic dystrophy?: a double-blind placebo-controlled crossover study. 24
17285226 2007
350
Assessment of sleep studies in myotonic dystrophy. 24
17416148 2007
351
Prenatal diagnosis in myotonic dystrophy type 1. Thirteen years of experience: implications for reproductive counselling in DM1 families. 24
17154336 2007
352
A reversal of misfortune for myotonic dystrophy? 24
17065646 2006
353
Laboratory abnormalities in ambulatory patients with myotonic dystrophy type 1. 24
16908743 2006
354
Psychostimulants for hypersomnia (excessive daytime sleepiness) in myotonic dystrophy. 24
16855999 2006
355
140th ENMC International Workshop: Myotonic Dystrophy DM2/PROMM and other myotonic dystrophies with guidelines on management. 24
16684600 2006
356
Survival and mortality of myotonic dystrophy type 1 (Steinert's disease) in the population of Belgrade. 24
16722967 2006
357
Health-related quality of life in myotonic dystrophy type 1 and its relationship with cognitive and emotional functioning. 24
16702085 2006
358
Brain-specific change in alternative splicing of Tau exon 6 in myotonic dystrophy type 1. 24
16487687 2006
359
Transmission ratio distortion in the myotonic dystrophy locus in human preimplantation embryos. 24
16391559 2006
360
Gastrointestinal manifestations in myotonic muscular dystrophy. 24
16609987 2006
361
Experienced fatigue in facioscapulohumeral dystrophy, myotonic dystrophy, and HMSN-I. 24
16170086 2005
362
Quantitative analysis of the "warm-up" phenomenon in myotonic dystrophy type 1. 24
15880468 2005
363
Nutritional inadequacy in adults with muscular dystrophy. 24
15786416 2005
364
Temperament and character in patients with classical myotonic dystrophy type 1 (DM-1). 24
15792867 2005
365
Intergenerational changes of CTG repeat depending on the sex of the transmitting parent in myotonic dystrophy type 1. 24
15693817 2005
366
Atrial fibrillation following chemotherapy for stage IIIE diffuse large B-cell gastric lymphoma in a patient with myotonic dystrophy (Steinert's disease). 24
15042318 2005
367
Strength training and aerobic exercise training for muscle disease. 24
15674918 2005
368
RNA pathogenesis of the myotonic dystrophies. 24
15639115 2005
369
Recurrent posterior capsular opacification and capsulorhexis contracture after cataract surgery in myotonic dystrophy. 24
15575838 2004
370
Effective doses of vecuronium in a patient with myotonic dystrophy. 24
15549982 2004
371
Myotonia and flaccid dysarthria in patients with adult onset myotonic dystrophy. 24
15377703 2004
372
A non-DM1, non-DM2 multisystem myotonic disorder with frontotemporal dementia: phenotype and suggestive mapping of the DM3 locus to chromosome 15q21-24. 24
15215218 2004
373
Myotonic dystrophy: RNA pathogenesis comes into focus. 24
15065017 2004
374
Reduction in excess daytime sleepiness by modafinil in patients with myotonic dystrophy. 24
12798791 2003
375
New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1). The International Myotonic Dystrophy Consortium (IDMC). 24
10746587 2000
376
A 10-year study of mortality in a cohort of patients with myotonic dystrophy. 24
10331695 1999
377
Linkage of proximal myotonic myopathy to chromosome 3q. 24
9921867 1999
378
Age and causes of death in adult-onset myotonic dystrophy. 24
9712016 1998
379
Apathy and hypersomnia are common features of myotonic dystrophy. 24
9576545 1998
380
Anesthetic and surgical complications in 219 cases of myotonic dystrophy. 24
9409361 1997
381
Gastrointestinal symptoms in myotonic dystrophy. 24
8819213 1996
382
Contribution of molecular analyses to the estimation of the risk of congenital myotonic dystrophy. 24
7760317 1995
383
Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring. 24
8464127 1993
384
Anesthetic management of a patient with Steinert disease. 61
31310950 2020
385
Curschmann-Steinert disease- A Case Report. 61
31979657 2020
386
The Role of Motor System in Mental Rotation: New Insights from Myotonic Dystrophy Type 1. 61
31822314 2019
387
Correction of Glycogen Synthase Kinase 3β in Myotonic Dystrophy 1 Reduces the Mutant RNA and Improves Postnatal Survival of DMSXL Mice. 61
31383751 2019
388
AAV-based gene therapies for the muscular dystrophies. 61
31238336 2019
389
Christmas tree cataract in Steinert disease. 61
31530369 2019
390
[Multiorgan manifestations in myotonic dystrophy type 1]. 61
31495190 2019
391
Transplantation studies reveal internuclear transfer of toxic RNA in engrafted muscles of myotonic dystrophy 1 mice. 61
31446083 2019
392
MRI of trunk muscles and motor and respiratory function in patients with myotonic dystrophy type 1. 61
31216995 2019
393
Nodular morphea in a patient with Steinert disease. 61
28895373 2019
394
RNA-mediated therapies in myotonic dystrophy. 61
30086404 2018
395
Heart transplantation in a patient with Myotonic Dystrophy type 1 and end-stage dilated cardiomyopathy: a short term follow-up. 61
30944906 2018
396
Recapitulating muscle disease phenotypes with myotonic dystrophy 1 induced pluripotent stem cells: a tool for disease modeling and drug discovery. 61
29898953 2018
397
Bruno-3 regulates sarcomere component expression and contributes to muscle phenotypes of myotonic dystrophy type 1. 61
29716962 2018
398
Cells of Matter-In Vitro Models for Myotonic Dystrophy. 61
29875732 2018
399
Is the epicardial left ventricular lead implantation an alternative approach to percutaneous attempt in patients with Steinert disease? A case report. 61
29770365 2017
400
CRISPR/Cas9-Mediated Deletion of CTG Expansions Recovers Normal Phenotype in Myogenic Cells Derived from Myotonic Dystrophy 1 Patients. 61
29246312 2017
401
Wide QRS Complex Tachycardia After Atropine Eye Drop Instillation as the First Manifestation of Steinert Disease. 61
27843001 2017
402
Cutaneous manifestations in Steinert’s disease. Apropos of four clinical cases. 61
28702961 2017
403
Liver Subcapsular Hematoma: A Rare Cause of Sudden Unexpected Death. 61
27861172 2017
404
Effect on lung function of mounthpiece ventilation in Steinert disease. A case report. 61
28690393 2017
405
Major involvement of trunk muscles in myotonic dystrophy type 1. 61
26984572 2016
406
Renal dysfunction can be a common complication in patients with myotonic dystrophy 1. 61
27538647 2016
407
Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells. 61
27501221 2016
408
Transfer of genetic therapy across human populations: molecular targets for increasing patient coverage in repeat expansion diseases. 61
25990798 2016
409
[A descriptive study of the neuropsychological and psychopathological profile in patients with type 1 myotonic dystrophy]. 61
26662870 2015
410
Computational investigation of RNA CUG repeats responsible for myotonic dystrophy 1. 61
26500461 2015
411
[Radical hysterectomy in a patient with Steinert disease: spinal anaesthesia, ketamine and TAP and rectus sheath blocks]. 61
26786377 2015
412
[Obstetrical care in myotonic dystrophy type 1 (Steinert disease)]. 61
26177888 2015
413
[Myotonic dystrophies: clinical presentation, pathogenesis, diagnostics and therapy]. 61
25602187 2015
414
Myotonic dystrophy-1 complicated by factor-v (leiden) mutation. 61
25918532 2015
415
Recurrent takotsubo syndrome in a patient with myotonic dystrophy 1. 61
25101654 2014
416
Three novel serum biomarkers, miR-1, miR-133a, and miR-206 for Limb-girdle muscular dystrophy, Facioscapulohumeral muscular dystrophy, and Becker muscular dystrophy. 61
25150707 2014
417
White matter lesions in myotonic dystrophy type 1 co-locate with dilated perivascular spaces. 61
25218663 2014
418
Retrospective study of pilomatricoma: 261 tumors in 239 patients. 61
24838222 2014
419
RBFOX1 cooperates with MBNL1 to control splicing in muscle, including events altered in myotonic dystrophy type 1. 61
25211016 2014
420
[Ventilator weaning failure: a rare case of Steinert disease diagnosis]. 61
24199904 2013
421
Noncompaction predisposing for recurrent Takotsubo syndrome in myotonic dystrophy 1. 61
23890854 2013
422
[Intestinal pseudo-obstruction as the first manifestation of Steinert disease]. 61
23711913 2013
423
Abnormal base excision repair at trinucleotide repeats associated with diseases: a tissue-selective mechanism. 61
24705210 2013
424
Myotonic dystrophy type 1 presenting with stroke-like episodes: a case report. 61
23803495 2013
425
Pattern dystrophy of the macula in a case of steinert disease. 61
24163680 2013
426
A myotonic dystrophy 1 patient complicated with placental adherence after miscarriage of one dichorionic diamniotic twin following her tenth in vitro fertilization and embryo transfer. 61
23011730 2012
427
[A prompt diagnosis of Steinert's dystrophy in emergency unit]. 61
23306738 2012
428
The heart and cardiac pacing in Steinert disease. 61
23097601 2012
429
Beneficial effect of digitoxin for heart failure from noncompaction in myotonic dystrophy 1. 61
22475848 2012
430
Gait pattern in myotonic dystrophy (Steinert disease): a kinematic, kinetic and EMG evaluation using 3D gait analysis. 61
22118863 2012
431
Myotonic dystrophy type 1 presenting as male infertility. 61
22379595 2012
432
Altered β-adrenergic response in mice lacking myotonic dystrophy protein kinase. 61
22190319 2012
433
Derivation and feeder-free propagation of human embryonic stem cells under xeno-free conditions. 61
22029654 2012
434
Transcription elongation and tissue-specific somatic CAG instability. 61
23209427 2012
435
The brain in myotonic dystrophy 1 and 2: evidence for a predominant white matter disease. 61
22131273 2011
436
Myotonic dystrophy protein kinase is critical for nuclear envelope integrity. 61
21949239 2011
437
Implantable loop recorders in myotonic dystrophy 1. 61
21880381 2011
438
[Heart and Steinert's disease]. 61
21272855 2011
439
Gastroparesis in myotonic dystrophy 1. 61
21125412 2011
440
Faecal incontinence due to atrophy of the anal sphincter in myotonic dystrophy: a case report. 61
21563659 2011
441
Peripheral neuropathy in myotonic dystrophy type 1. 61
21504499 2011
442
[Activities of Akt pathway and their correlation with pathological changes in myotonic dystrophy]. 61
20957008 2010
443
Expansion of CUG RNA repeats causes stress and inhibition of translation in myotonic dystrophy 1 (DM1) cells. 61
20479119 2010
444
Posture and gait abilities in patients with myotonic dystrophy (Steinert disease). Evaluation on the short-term of a rehabilitation program. 61
20638922 2010
445
The myotonic dystrophies: diagnosis and management. 61
20176601 2010
446
Comparative analysis of brain structure, metabolism, and cognition in myotonic dystrophy 1 and 2. 61
20220122 2010
447
Pneumosinus dilatans and hypercalcification of the falx and ligamentum petroclinoideum in myotonic dystrophy 1. 61
20220451 2010
448
Muscleblind1, but not Dmpk or Six5, contributes to a complex phenotype of muscular and motivational deficits in mouse models of myotonic dystrophy. 61
20360842 2010
449
Anesthesia for videolaparoscopic cholecystectomy in a patient with Steinert disease. Case report and review of the literature. 61
20485964 2010
450
New analysis method of myotonic dystrophy 1 based on quantitative fluorescent polymerase chain reaction. 61
19715468 2009
451
Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction. 61
19184181 2009
452
High-fat diet induced adiposity and insulin resistance in mice lacking the myotonic dystrophy protein kinase. 61
19482024 2009
453
Polar body biopsy for Curschmann-Steinert disease and successful pregnancy following embryo vitrification. 61
19490786 2009
454
[Anaesthetic management of patients with Steinert myotonia: two case reports]. 61
19211217 2009
455
Myotonic dystrophy protein kinase (DMPK) and its role in the pathogenesis of myotonic dystrophy 1. 61
18583094 2008
456
Treatment of neuromuscular channelopathies: current concepts and future prospects. 61
19019313 2008
457
Cardiac surgery in type-1-myotonic muscular dystrophy (Steinert syndrome) associated to Barlow disease. 61
18208845 2008
458
Genetic and chemical modifiers of a CUG toxicity model in Drosophila. 61
18270582 2008
459
White matter hyperintense lesions in genetically proven spinocerebellar ataxia 8. 61
17920187 2008
460
Myotonic dystrophy 1 in the nervous system: from the clinic to molecular mechanisms. 61
17549748 2008
461
Role of myotonic dystrophy protein kinase (DMPK) in glucose homeostasis and muscle insulin action. 61
17987120 2007
462
Asymptomatic, progressive electrocardiographic abnormalities over twelve years in myotonic dystrophy 1. 61
17982974 2007
463
Increased steady-state levels of CUGBP1 in myotonic dystrophy 1 are due to PKC-mediated hyperphosphorylation. 61
17936705 2007
464
Regulation of the promoter of CUG triplet repeat binding protein, Cugbp1, during myogenesis. 61
17531403 2007
465
[Steinert disease]. 61
17289339 2007
466
Chromatin structur