Myotonic Dystrophy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: MYT002 MIFTS: 49	Myotonic Dystrophy Categories: Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for Myotonic Dystrophy

MalaCards integrated aliases for Myotonic Dystrophy:

Name: Myotonic Dystrophy ⁷⁴ ⁵² ²⁵ ⁵⁸ ³⁶ ²⁹ ⁵⁴ ⁶ ⁷¹

Dystrophia Myotonica ⁵² ²⁵

Myotonia Dystrophica ⁵² ²⁵

Myotonia Atrophica ⁵² ²⁵

Myotonic Dystrophy 1 ⁷¹

Characteristics:

Orphanet epidemiological data:

⁵⁸

myotonic dystrophy
Prevalence: >1/1000,1-9/100000 (Worldwide),1-9/100000 (Europe),1-9/100000 (Italy),1-9/100000 (Japan),1-9/100000 (Ireland),1-5/10000 (Croatia),1-5/10000 (New Zealand),1-5/10000 (Finland),1-9/100000 (Norway),1-5/10000 (Spain),1-9/100000 (United States);

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Reproductive diseases Endocrine diseases Muscle diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the nervous system

Diseases of myoneural junction and muscle

Primary disorders of muscles

Myotonic disorders

Orphanet: ⁵⁸

Rare neurological diseases

External Ids:

KEGG ³⁶ H00568

MESH via Orphanet ⁴⁴ D009223

ICD10 via Orphanet ³³ G71.1

UMLS via Orphanet ⁷² C0027126 C0410226

Orphanet ⁵⁸ ORPHA206647

UMLS ⁷¹ C0027126 C3250443

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Summaries for Myotonic Dystrophy

Genetics Home Reference : ²⁵ Myotonic dystrophy is part of a group of inherited disorders called muscular dystrophies. It is the most common form of muscular dystrophy that begins in adulthood. Myotonic dystrophy is characterized by progressive muscle wasting and weakness. People with this disorder often have prolonged muscle contractions (myotonia) and are not able to relax certain muscles after use. For example, a person may have difficulty releasing their grip on a doorknob or handle. Also, affected people may have slurred speech or temporary locking of their jaw. Other signs and symptoms of myotonic dystrophy include clouding of the lens of the eye (cataracts) and abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects). In affected men, hormonal changes may lead to early balding and an inability to father a child (infertility). The features of this disorder often develop during a person's twenties or thirties, although they can occur at any age. The severity of the condition varies widely among affected people, even among members of the same family. There are two major types of myotonic dystrophy: type 1 and type 2. Their signs and symptoms overlap, although type 2 tends to be milder than type 1. The muscle weakness associated with type 1 particularly affects the lower legs, hands, neck, and face. Muscle weakness in type 2 primarily involves the muscles of the neck, shoulders, elbows, and hips. The two types of myotonic dystrophy are caused by mutations in different genes. A variation of type 1 myotonic dystrophy, called congenital myotonic dystrophy, is apparent at birth. Characteristic features include weak muscle tone (hypotonia), an inward- and upward-turning foot (clubfoot), breathing problems, delayed development, and intellectual disability. Some of these health problems can be life-threatening.

MalaCards based summary : Myotonic Dystrophy, also known as dystrophia myotonica, is related to myotonic dystrophy 1 and myotonic dystrophy 2, and has symptoms including excessive daytime somnolence and weakness. An important gene associated with Myotonic Dystrophy is DMPK (DM1 Protein Kinase). The drugs Dopamine and Methylphenidate have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and skeletal muscle, and related phenotypes are Increased cell viability after pRB stimulation and muscle

NIH Rare Diseases : ⁵² Myotonic dystrophy is a disease that affects the muscles and other body systems. It is the most common form of muscular dystrophy that begins in adulthood, usually in a person's 20s or 30s. This disease is characterized by progressive muscle loss and weakness. Myotonic dystrophy may be further classified into two types, and the two types may affect different muscles. People with myotonic dystrophy usually have prolonged muscle tensing (myotonia ) and are not able to relax certain muscles after use. The severity of the disease may vary among affected people, even among members of the same family. Myotonic dystrophy is caused by mutations (changes) in the DMPK gene or the CNBP (ZNF9) gene depending on the specific type of myotonic dystrophy. The disease is inherited in an autosomal dominant manner. Myotonic dystrophy may be diagnosed when a healthcare provider observes signs and symptoms of the disease, and the diagnosis may be confirmed with tests of muscle function and genetic testing . Treatment is based on each person's specific signs and symptoms and may include physical therapy , pain management with medication, and consultation with specialists.

KEGG : ³⁶ Myotonic dystrophy (DM) is a complex multisystemic disorder linked to two different genetic loci. DM1 is caused by an expansion of a CTG repeat located in the 3' untranslated region (UTR) of DMPK. DM2 is caused by an unstable CCTG repeat in intron 1 of ZNF9. Therefore, both DMs are caused by a repeat expansion in a region transcribed into RNA but not translated into protein. The mutant RNA transcripts aberrantly affect the splicing of the same target RNAs, such as chloride channel 1 (ClC-1) and insulin receptor (INSR), resulting in their shared myotonia and insulin resistance. Affected individuals express highly heterogeneous, multisystemic symptoms including myotonia (muscle hyperexcitability), progressive muscle weakness and wasting, cataract development, testicular atrophy, and cardiac conduction defects. It has an autosomal dominant mode of inheritance and disease severity generally correlates with repeat length.

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

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Related Diseases for Myotonic Dystrophy

Diseases in the Myotonic Dystrophy family:

Myotonic Dystrophy 1

Myotonic Dystrophy 2

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

(show top 50) (show all 624)

#	Related Disease	Score	Top Affiliating Genes
1	myotonic dystrophy 1	31.8	SIX5 MBNL3 MBNL2 MBNL1 DMPK CNBP
2	myotonic dystrophy 2	31.7	SIX5 MBNL3 MBNL2 MBNL1 DMPK CNBP
3	myotonia	31.5	DMPK CNBP CLCN1
4	myotonia congenita	30.2	LOC108644431 DMPK CNBP CLCN1
5	autosomal dominant cerebellar ataxia	30.0	MBNL1 DMPK CNBP CELF1
6	neuromuscular disease	30.0	MBNL1 HSPB2 DMPK CNBP CELF1
7	fuchs' endothelial dystrophy	29.9	MBNL2 MBNL1 DMPK
8	spinocerebellar ataxia 8	29.8	MBNL1 DMPK CNBP CELF1
9	hyperkalemic periodic paralysis	29.7	DMPK CNBP CLCN1
10	cataract	29.6	SIX5 MBNL1 HSPB2 DMPK CNBP
11	fragile x-associated tremor/ataxia syndrome	29.5	MBNL1 DMPK CNBP CELF1
12	huntington disease-like 2	29.4	MBNL1 DMPK CNBP CELF1
13	muscular disease	29.1	MBNL2 MBNL1 DMPK CNBP CLCN1 CELF1
14	myotonic disease	28.0	SIX5 MBNL3 MBNL2 MBNL1 DMPK CNBP
15	pilomatrixoma	11.8
16	hypotonia	11.7
17	dysphagia	11.7
18	myotonic cataract	11.6
19	swallowing disorders	11.6
20	nondystrophic myotonia	11.6
21	floppy infant syndrome	11.3
22	infantile hypotonia	11.3
23	muscular dystrophy	11.1
24	myopathy	10.9
25	muscular atrophy	10.8
26	respiratory failure	10.7
27	atrioventricular block	10.7
28	sleep apnea	10.7
29	cardiac conduction defect	10.6
30	neuropathy	10.6
31	hypogonadism	10.6
32	hyperinsulinism	10.6
33	hypogonadotropism	10.6
34	progressive familial heart block, type ia	10.6
35	polyhydramnios	10.6
36	ptosis	10.6
37	hypersomnia	10.5
38	glucose intolerance	10.5
39	left bundle branch hemiblock	10.5
40	huntington disease	10.5
41	atrial standstill 1	10.5
42	muscular dystrophy, duchenne type	10.5
43	ataxia and polyneuropathy, adult-onset	10.5
44	sleep disorder	10.5
45	peripheral nervous system disease	10.5
46	orthostatic intolerance	10.5
47	dilated cardiomyopathy	10.5
48	hyperparathyroidism	10.4
49	thymoma, familial	10.4
50	thymoma	10.4

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

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Symptoms & Phenotypes for Myotonic Dystrophy

UMLS symptoms related to Myotonic Dystrophy:

excessive daytime somnolence, weakness

GenomeRNAi Phenotypes related to Myotonic Dystrophy according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased cell viability after pRB stimulation	GR00230-A-1	8.8	CDC42BPA CDC42BPB DMPK

MGI Mouse Phenotypes related to Myotonic Dystrophy:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	muscle	MP:0005369	9.1	CLCN1 DMPK MBNL1 MBNL2 MBNL3 SIX5

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Drugs & Therapeutics for Myotonic Dystrophy

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

(show top 50) (show all 53)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Dopamine

Approved

Phase 2, Phase 3

51-61-6, 62-31-7

681

Methylphenidate

Approved, Investigational

Phase 2, Phase 3

113-45-1

4158

Lamotrigine

Approved, Investigational

Phase 3

84057-84-1

3878

Calcium

Approved, Nutraceutical

Phase 3

7440-70-2

271

Dehydroepiandrosterone

Approved, Investigational, Nutraceutical

Phase 2, Phase 3

53-43-0

9860744

Dopamine Uptake Inhibitors

Phase 2, Phase 3

Neurotransmitter Agents

Phase 2, Phase 3

Dopamine Agents

Phase 2, Phase 3

Sodium Channel Blockers

Phase 3

Diuretics, Potassium Sparing

Phase 3

Tranquilizing Agents

Phase 3

Antipsychotic Agents

Phase 3

Psychotropic Drugs

Phase 3

Anticonvulsants

Phase 3

Calcium, Dietary

Phase 3

calcium channel blockers

Phase 3

Central Nervous System Depressants

Phase 3

Hormones

Phase 3

Adjuvants, Immunologic

Phase 2, Phase 3

DHEA (Dehydroepiandrosterone)

Phase 2, Phase 3

Immunologic Factors

Phase 2, Phase 3

Zinc

Approved, Investigational

Phase 2

7440-66-6

32051

Mexiletine

Approved, Investigational

Phase 2

31828-71-4

4178

Mecasermin

Approved, Investigational

Phase 1, Phase 2

68562-41-4

Clarithromycin

Approved

Phase 2

81103-11-9

84029

Hypoglycemic Agents

Phase 2

Complement Factor I

Phase 2

Anti-Arrhythmia Agents

Phase 2

Mitogens

Phase 1, Phase 2

insulin

Phase 1, Phase 2

Insulin, Globin Zinc

Phase 1, Phase 2

Anti-Infective Agents

Phase 2

Cytochrome P-450 CYP3A Inhibitors

Phase 2

Cytochrome P-450 Enzyme Inhibitors

Phase 2

Anti-Bacterial Agents

Phase 2

Antibiotics, Antitubercular

Phase 2

Ranolazine

Approved, Investigational

Phase 1

95635-55-5, 142387-99-3

56959

Modafinil

Approved, Investigational

68693-11-8

4236

Fibrinolysin

Investigational

9004-09-5

Plasminogen Activator Inhibitor 1

Hemostatics

Liver Extracts

Plasminogen Inactivators

Lupus Coagulation Inhibitor

alpha-2-Antiplasmin

Anticoagulants

Plasminogen

Coagulants

Pigment epithelium-derived factor

Antifibrinolytic Agents

Interventional clinical trials:

(show top 50) (show all 58)

#	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 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
9	A Randomized, Placebo Controlled, Clinical Efficacy Trial of Mexiletine for Myotonic Dystrophy Type-1 (DM1)	Completed	NCT01406873	Phase 2	Mexiletine;Placebo
10	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
11	Effects of SomatoKine (Iplex) (rhIGF-I/rhIGFBP-3) in Myotonic Dystrophy Type 1 (DM1)	Completed	NCT00233519	Phase 1, Phase 2	SomatoKine/IPLEX
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	Function, Structure and Quality of Striated Muscles in Patients With Muscular Diseases - an MRI Study on Pompe Disease and Dystrophia Myotonica	Unknown status	NCT02708784
18	Sleep Breathing Disorders, a Main Trigger for Cardiac ARythmias in Type I Myotonic Dystrophy ?	Unknown status	NCT02375087
19	Defining and Managing the Neuropsychological Abnormalities of Myotonic Dystrophy	Unknown status	NCT02269865
20	Four Weeks Withdrawal of Non-invasive Ventilation (NIV) in Patients With Myotonic Dystrophy: Cardiovascular, Metabolic and Daytime Vigilance Induced Changes	Unknown status	NCT00745238
21	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
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	Incidence and Predictors of Venous Thromboembolism in Myotonic Dystrophy	Completed	NCT03141749
30	Brain Involvement in Myotonic Dystrophy Type I: From Functional Neuroimaging to the Impact on Quality of Life	Completed	NCT03589677
31	Myotonic Dystrophy:Muscle Wasting and Altered Metabolism	Completed	NCT00004769
32	Lung Function Impairment and Postural Spirometry Changes in Ambulatory Myotonic Dystrophy Patients	Completed	NCT01242007
33	A Registry of Arrhythmias in Myotonic Muscular Dystrophy	Completed	NCT00622453
34	Observational Prolonged Trial in Myotonic Dystrophy Type 1 to Improve Quality of Life Standards, a Target Identification Collaboration	Completed	NCT02118779
35	Pulmonary Hypertension--Mechanisms and Family Registry	Completed	NCT00005357
36	Establishing Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1)	Recruiting	NCT03981575
37	The UK National Registry for Myotonic Dystrophy	Recruiting	NCT04003363
38	Effect of Noninvasive Mechanical Ventilation on Ventilatory Response in Patients With Myotonic Dystrophy Type 1	Recruiting	NCT02880735
39	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
40	Venous Thromboembolism in Myotonic Dystrophy Type 1	Recruiting	NCT03424460
41	Functional and Cellular Benefits of Aerobic Exercise in Myotonic Dystrophy Type 1 Patients	Recruiting	NCT04187482
42	Factors Associated With Hypoventilation in the Myotonic Dystrophy, Progressive Profile Over 5 Years	Recruiting	NCT03764150
43	Myotonic Dystrophy Family Registry	Recruiting	NCT02398786
44	Trial Readiness and Endpoint Assessment in Congenital Myotonic Dystrophy	Recruiting	NCT03059264
45	National Registry of Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy Patients and Family Members	Recruiting	NCT00082108
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	A Multi-Site Tissue Repository Providing Annotated Biospecimens for Approved Investigator-Directed Biomedical Research Initiatives	Recruiting	NCT01931644
49	Non Invasive Prenatal Diagnosis on Isolated Circulating Fetal Trophoblastic Cells (CFTC) for Triplet Repeat Diseases	Recruiting	NCT03087526
50	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

Search NIH Clinical Center for Myotonic Dystrophy

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Genetic Tests for Myotonic Dystrophy

Genetic tests related to Myotonic Dystrophy:

#	Genetic test	Affiliating Genes
1	Myotonic Dystrophy ²⁹

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Anatomical Context for Myotonic Dystrophy

MalaCards organs/tissues related to Myotonic Dystrophy:

⁴⁰

Heart, Testes, Skeletal Muscle, Brain, Eye, Thyroid, Liver

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Publications for Myotonic Dystrophy

Articles related to Myotonic Dystrophy:

(show top 50) (show all 5159)

#	Title	Authors	PMID	Year
1	Myotonic dystrophy: candidate small molecule therapeutics. ⁶¹ ⁵²	Konieczny P...Artero R	28780071	2017
2	Elimination of Toxic Microsatellite Repeat Expansion RNA by RNA-Targeting Cas9. ⁶¹ ⁵²	Batra R...Yeo GW	28803727	2017
3	Proteome profile in Myotonic Dystrophy type 2 myotubes reveals dysfunction in protein processing and mitochondrial pathways. ⁵⁴ ⁶¹	Rusconi F...Zippel R	20138216	2010
4	Human MRCKalpha is regulated by cellular iron levels and interferes with transferrin iron uptake. ⁵⁴ ⁶¹	Cmejla R...Vyoral D	20188707	2010
5	Molecular therapy in myotonic dystrophy: focus on RNA gain-of-function. ⁵⁴ ⁶¹	Mulders SA...Wansink DG	20406734	2010
6	Molecular aptamer beacon for myotonic dystrophy kinase-related Cdc42-binding kinase alpha. ⁵⁴ ⁶¹	Tok J...Li SF	20188990	2010
7	Heart-specific overexpression of CUGBP1 reproduces functional and molecular abnormalities of myotonic dystrophy type 1. ⁵⁴ ⁶¹	Koshelev M...Cooper TA	20051426	2010
8	Possible de novo CTG repeat expansion in the DMPK gene of a patient with cardiomyopathy. ⁵⁴ ⁶¹	Furutama D...Hanafusa T	20074967	2010
9	Muscleblind1, but not Dmpk or Six5, contributes to a complex phenotype of muscular and motivational deficits in mouse models of myotonic dystrophy. ⁵⁴ ⁶¹	Matynia A...Reddy S	20360842	2010
10	CCUG repeats reduce the rate of global protein synthesis in myotonic dystrophy type 2. ⁵⁴ ⁶¹	Schneider-Gold C...Timchenko LT	20458885	2010
11	MT1-MMP- and Cdc42-dependent signaling co-regulate cell invasion and tunnel formation in 3D collagen matrices. ⁵⁴ ⁶¹	Fisher KE...Davis GE	19934222	2009
12	Pathogenic mechanisms of myotonic dystrophy. ⁵⁴ ⁶¹	Lee JE...Cooper TA	19909263	2009
13	A tail-anchored myotonic dystrophy protein kinase isoform induces perinuclear clustering of mitochondria, autophagy, and apoptosis. ⁵⁴ ⁶¹	Oude Ophuis RJ...Wansink DG	19946639	2009
14	RNA/MBNL1-containing foci in myoblast nuclei from patients affected by myotonic dystrophy type 2: an immunocytochemical study. ⁵⁴ ⁶¹	Perdoni F...Pellicciari C	19864209	2009
15	Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction. ⁵⁴ ⁶¹	Finsterer J	19184181	2009
16	High-fat diet induced adiposity and insulin resistance in mice lacking the myotonic dystrophy protein kinase. ⁵⁴ ⁶¹	Llagostera E...Kaliman P	19482024	2009
17	Model for alternative splicing of insulin receptor in myotonic dystrophy type 1. ⁵⁴ ⁶¹	Tonevitsky EA...Trushkin EV	19902080	2009
18	Ribonuclear inclusions and MBNL1 nuclear sequestration do not affect myoblast differentiation but alter gene splicing in myotonic dystrophy type 2. ⁵⁴ ⁶¹	Cardani R...Meola G	19345584	2009
19	Ribonuclear inclusions as biomarker of myotonic dystrophy type 2, even in improperly frozen or defrozen skeletal muscle biopsies. ⁵⁴ ⁶¹	Cardani R...Meola G	19683984	2009
20	Analysis of repetitive regions in myotonic dystrophy type 1 and 2. ⁵⁴ ⁶¹	Carson NL	19360700	2009
21	A Z-DNA sequence reduces slipped-strand structure formation in the myotonic dystrophy type 2 (CCTG) x (CAGG) repeat. ⁵⁴ ⁶¹	Edwards SF...Sinden RR	19218442	2009
22	Alternative splicing of RyR1 alters the efficacy of skeletal EC coupling. ⁵⁴ ⁶¹	Kimura T...Dulhunty AF	19131108	2009
23	Myotonic dystrophy type 2 with focal asymmetric muscle weakness and no electrical myotonia. ⁵⁴ ⁶¹	Milone M...Daube JR	19208413	2009
24	[MyoD mRNA expression in skeletal muscle of patients with myotonic dystrophy]. ⁵⁴ ⁶¹	Zhao XP...Luo P	19567095	2009
25	Muscleblind-like proteins: similarities and differences in normal and myotonic dystrophy muscle. ⁵⁴ ⁶¹	Holt I...Morris GE	19095965	2009
26	Colocalization of ribonuclear inclusions with muscle blind like-proteins in a family with myotonic dystrophy type 2 associated with a short CCTG expansion. ⁵⁴ ⁶¹	Lucchiari S...Meola G	18804219	2008
27	Analysis of Single Nucleotide Polymorphisms (SNPs) of the small-conductance calcium activated potassium channel (SK3) gene as genetic modifier of the cardiac phenotype in myotonic dystrophy type 1 patients. ⁵⁴ ⁶¹	Rinaldi F...Novelli G	19472917	2008
28	High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany. ⁵⁴ ⁶¹	Suominen T...Udd B	18807109	2008
29	Myotonic dystrophy protein kinase (DMPK) and its role in the pathogenesis of myotonic dystrophy 1. ⁵⁴ ⁶¹	Kaliman P...Llagostera E	18583094	2008
30	A putative role of ribonuclear inclusions and MBNL1 in the impairment of gallbladder smooth muscle contractility with cholelithiasis in myotonic dystrophy type 1. ⁵⁴ ⁶¹	Cardani R...Meola G	18653337	2008
31	HSPB2/MKBP, a novel and unique member of the small heat-shock protein family. ⁵⁴ ⁶¹	Hu Z...Wang X	18615620	2008
32	Myotonic disorders. ⁵⁴ ⁶¹	Mankodi A	18974556	2008
33	Characterization of the interaction of phorbol esters with the C1 domain of MRCK (myotonic dystrophy kinase-related Cdc42 binding kinase) alpha/beta. ⁵⁴ ⁶¹	Choi SH...Blumberg PM	18263588	2008
34	Drosophila muscleblind is involved in troponin T alternative splicing and apoptosis. ⁵⁴ ⁶¹	Vicente-Crespo M...Artero RD	18286170	2008
35	Myotonic dystrophy type 2 in Japan: ancestral origin distinct from Caucasian families. ⁵⁴ ⁶¹	Saito T...Matsuura T	18057971	2008
36	The hypocretin neurotransmission system in myotonic dystrophy type 1. ⁵⁴ ⁶¹	Ciafaloni E...Thornton CA	18195268	2008
37	Myotonic dystrophy 1 in the nervous system: from the clinic to molecular mechanisms. ⁵⁴ ⁶¹	de Leon MB...Cisneros B	17549748	2008
38	Fibroblast-led collective invasion of carcinoma cells with differing roles for RhoGTPases in leading and following cells. ⁵⁴ ⁶¹	Gaggioli C...Sahai E	18037882	2007
39	Molecular mechanisms responsible for aberrant splicing of SERCA1 in myotonic dystrophy type 1. ⁵⁴ ⁶¹	Hino S...Imaizumi K	17728322	2007
40	Endoplasmic reticulum stress in myotonic dystrophy type 1 muscle. ⁵⁴ ⁶¹	Ikezoe K...Kira J	17661063	2007
41	Role of myotonic dystrophy protein kinase (DMPK) in glucose homeostasis and muscle insulin action. ⁵⁴ ⁶¹	Llagostera E...Kaliman P	17987120	2007
42	Defective mRNA in myotonic dystrophy accumulates at the periphery of nuclear splicing speckles. ⁵⁴ ⁶¹	Holt I...Morris GE	17825047	2007
43	Altered mRNA splicing of dystrophin in type 1 myotonic dystrophy. ⁵⁴ ⁶¹	Nakamori M...Sakoda S	17487865	2007
44	Regulation of the promoter of CUG triplet repeat binding protein, Cugbp1, during myogenesis. ⁵⁴ ⁶¹	Huichalaf CH...Timchenko L	17531403	2007
45	Co-operative Cdc42 and Rho signalling mediates ephrinB-triggered endothelial cell retraction. ⁵⁴ ⁶¹	Groeger G...Nobes CD	17300218	2007
46	Regulation of chloride ion conductance during skeletal muscle development and in disease. Focus on "Chloride channelopathy in myotonic dystrophy resulting from loss of posttranscriptional regulation for CLCN1". ⁵⁴ ⁶¹	Cooper TA	17215330	2007
47	The nondystrophic myotonias. ⁵⁴ ⁶¹	Heatwole CR...Moxley RT	17395134	2007
48	Elevated FMR1 mRNA in premutation carriers is due to increased transcription. ⁵⁴ ⁶¹	Tassone F...Hagerman PJ	17283214	2007
49	Myotonic dystrophy: emerging mechanisms for DM1 and DM2. ⁵⁴ ⁶¹	Cho DH...Tapscott SJ	16876389	2007
50	Muscleblind-like 1 interacts with RNA hairpins in splicing target and pathogenic RNAs. ⁵⁴ ⁶¹	Yuan Y...Swanson MS	17702765	2007

Sources

Genes for Myotonic Dystrophy

Genes related to Myotonic Dystrophy (0 elite genes):

(show all 15)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	DMPK	DM1 Protein Kinase	Protein Coding	53.32	Novoseek inferred ⁵⁴ GeneCards inferred via : Publications Gene name Summaries Variants (show sections)	9607721 9535904 9276336 (more) 9811941 9858828 12226810 11527424 10021468 9610815 10434869 8288237 8523032 9094985 9207102 9436441 10332037 12897125 19946639 7590731 11001935 10699184 11045673 9097959 11526199 11287000 10913253 10454725 9366177 12630069 10802667 10500258 10446244 7657592 7518680 19309729 18583094 11064921 16099181 12397222 11595515 10958655 10936001 9371827 19482024 16680721 11592825 11343809 10911990 9949207 9463318 9207101 15722335 15598648 15201450 20074967 12598332 10811636 10869570 10222793 9436437 9401107 17987120 20458885 16193250 12832055 10064167 9490724 9225761 8495213 10026240 16440558 15740580 12325072 11809728 11726559 10970838 10951446 10767343 10733240 15489504 15459182 15185171 15194684 14635426 12013582 10556089 9916519 9836067 9092543 8923304 8812448 8784800 8727368 8752438 7626046 8281152 8255475 18615620 17549748
2	LOC109461477	Dystrophia Myotonica Protein Kinase Repeat Instability Region	Biological Region	41.06	GeneCards inferred via : Publications Gene name Summaries Variants (show sections)
3	MBNL1	Muscleblind Like Splicing Regulator 1	Protein Coding	38.54	Novoseek inferred ⁵⁴ GeneCards inferred via : Publications Summaries localization (show sections)	19095965 18653337 19345584 (more) 16723374 18286170 17702765 19864209
4	CDC42BPA	CDC42 Binding Protein Kinase Alpha	Protein Coding	38.3	Novoseek inferred ⁵⁴ GeneCards inferred via : Publications Gene name Summaries (show sections)	20188990 12568720 11283256 (more) 11340065 18263588 9092543 17300218 12018391 19934222 18037882 15723050 20188707 16412980 10947843 11399775
5	CELF1	CUGBP Elav-Like Family Member 1	Protein Coding	38.16	Novoseek inferred ⁵⁴ GeneCards inferred via : Publications Summaries Functions (show sections)	9427761 10556089 12649496 (more) 16946708 11124939 20051426 8789448 14722059 16723374 17531403 12799066
6	MBNL2	Muscleblind Like Splicing Regulator 2	Protein Coding	36.35	Novoseek inferred ⁵⁴ GeneCards inferred via : Publications Summaries Functions (show sections)	12915312 19095965
7	CDC42BPB	CDC42 Binding Protein Kinase Beta	Protein Coding	35.87	GeneCards inferred via : Publications Gene name Summaries Functions (show sections)
8	MBNL3	Muscleblind Like Splicing Regulator 3	Protein Coding	35.52	Novoseek inferred ⁵⁴ GeneCards inferred via : Publications Summaries Functions (show sections)	12915312
9	LOC107075317	Origin Of Replication In DMPK Trinucleotide Repeat Region	Biological Region	29.66	GeneCards inferred via : Publications Summaries Variants (show sections)
10	CNBP	CCHC-Type Zinc Finger Nucleic Acid Binding Protein	Protein Coding	28.74	Novoseek inferred ⁵⁴ GeneCards inferred via : Publications Summaries (show sections)	20458885 16376058 15652222 (more) 16876389 19218442 15215218 18057971 15231584 19909263 19360700 15718211 18804219 18974556 17825047 15322428 11486088 17039977 15773341 19864209 19683984 14666402 15114529 17395134 20138216 16624843 20406734 19345584
11	SIX5	SIX Homeobox 5	Protein Coding	28.23	Novoseek inferred ⁵⁴ GeneCards inferred via : Publications Functions (show sections)	11526199 10332037 9241282 (more) 15201450 9949207 10399747 12397222 11470409 20360842 10958655 11592825 9872056 10021468 11978764
12	LOC108644431	Myotonic Dystrophy Type 2 Repeat Instability Region	Biological Region	27.63	GeneCards inferred via : Publications Gene name Summaries (show sections)
13	HSPB2	Heat Shock Protein Family B (Small) Member 2	Protein Coding	21.27	Novoseek inferred ⁵⁴ GeneCards inferred via : Publications Summaries (show sections)	10355872 9490724 12820655
14	DM1-AS	DM1 Locus Antisense RNA	RNA Gene	19.39	GeneCards inferred via : Publications Variants (show sections)
15	CLCN1	Chloride Voltage-Gated Channel 1	Protein Coding	17.96	Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	18807109 17215330

Sources

Variations for Myotonic Dystrophy

ClinVar genetic disease variations for Myotonic Dystrophy:

⁶ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	DMPK	NM_004409.5(DMPK):c.643G>A (p.Gly215Ser)	SNV	Uncertain significance	496654	rs747348407	19:46281417-46281417	19:45778159-45778159
2	DMPK	NM_004409.5(DMPK):c.1697C>T (p.Pro566Leu)	SNV	Uncertain significance	548605	rs536277584	19:46274269-46274269	19:45771011-45771011
3	DMPK	NM_004409.5(DMPK):c.1477C>T (p.Arg493Cys)	SNV	Likely benign	496650	rs78771765	19:46275054-46275054	19:45771796-45771796

Sources

Expression for Myotonic Dystrophy

Search GEO for disease gene expression data for Myotonic Dystrophy.

Sources

Pathways for Myotonic Dystrophy

Sources

GO Terms for Myotonic Dystrophy

Cellular components related to Myotonic Dystrophy according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	actomyosin	GO:0042641	8.62	CDC42BPB CDC42BPA

Biological processes related to Myotonic Dystrophy according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	mRNA processing	GO:0006397	9.56	MBNL3 MBNL2 MBNL1 CELF1
2	RNA splicing	GO:0008380	9.46	MBNL3 MBNL2 MBNL1 CELF1
3	actomyosin structure organization	GO:0031032	9.32	CDC42BPB CDC42BPA
4	regulation of alternative mRNA splicing, via spliceosome	GO:0000381	9.26	MBNL3 MBNL2 MBNL1 CELF1
5	regulation of RNA splicing	GO:0043484	8.92	MBNL3 MBNL2 MBNL1 CELF1

Sources

Sources for Myotonic Dystrophy

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia