MCID: MSC190
MIFTS: 53

Muscular Disease

Categories: Muscle diseases, Neuronal diseases

Aliases & Classifications for Muscular Disease

MalaCards integrated aliases for Muscular Disease:

Name: Muscular Disease 12 15 17
Muscular Diseases 30 6

Classifications:



External Ids:

Disease Ontology 12 DOID:0080000

Summaries for Muscular Disease

Disease Ontology : 12 A musculoskeletal system disease that affects the muscles.

MalaCards based summary : Muscular Disease, also known as muscular diseases, is related to myopathy and muscular dystrophy, and has symptoms including muscle weakness, myoclonus and back pain. An important gene associated with Muscular Disease is DMD (Dystrophin), and among its related pathways/superpathways is Cardiac conduction. The drugs Telbivudine and Entecavir have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and spinal cord, and related phenotypes are behavior/neurological and cellular

Wikipedia : 77 Myopathy is a disease of the muscle in which the muscle fibers do not function properly. This results in... more...

Related Diseases for Muscular Disease

Diseases related to Muscular Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 73)
# Related Disease Score Top Affiliating Genes
1 myopathy 33.8 COL6A1 COL6A3 DYSF EMD GAA RYR1
2 muscular dystrophy 30.8 ANO5 COL6A1 COL6A3 DMD DYSF EMD
3 atrophic muscular disease 12.0
4 neuromuscular disease 10.9 DMD EMD GAA RYR1 SCN4A SMN1
5 muscle tissue disease 10.9 COL6A1 DMD DYSF EMD GAA RYR1
6 muscular dystrophy, congenital, lmna-related 10.9 COL6A1 COL6A3 DMD EMD POMGNT2 TTN
7 rigid spine muscular dystrophy 1 10.8 DMD DYSF GAA RYR1 TTN
8 myopathy, congenital 10.8 DMD DNM2 DYSF GAA RYR1
9 atrial standstill 1 10.8 ACADVL DMD EMD GAA TTN
10 limb-girdle muscular dystrophy 10.8 ANO5 DMD DYSF TRIM32 TTN
11 muscular dystrophy, limb-girdle, autosomal recessive 7 10.8 DMD DYSF TRIM32 TTN
12 centronuclear myopathy 10.8 DMD DNM2 RYR1 TTN
13 muscular dystrophy-dystroglycanopathy , type c, 5 10.8 DYSF POMGNT2 TRIM32 TTN
14 muscular dystrophy, limb-girdle, autosomal recessive 6 10.8 DMD DYSF TRIM32 TTN
15 autosomal recessive limb-girdle muscular dystrophy 10.8 ANO5 DMD DYSF TRIM32
16 miyoshi muscular dystrophy 10.8 ANO5 DMD DYSF TTN
17 congenital fiber-type disproportion 10.8 DMD DYSF EMD RYR1
18 bethlem myopathy 1 10.8 COL6A1 COL6A3 DMD DYSF
19 arrhythmogenic right ventricular cardiomyopathy 10.8 DMD EMD RYR1 TTN
20 peripheral nervous system disease 10.8 DNM2 SMN1 SMN2 TTN
21 isolated hyperckemia 10.8 ANO5 DMD GAA
22 myopathy, proximal, and ophthalmoplegia 10.8 COL6A1 EMD RYR1
23 creatine phosphokinase, elevated serum 10.8 ANO5 DMD GAA
24 myopathy, x-linked, with excessive autophagy 10.8 DMD EMD GAA
25 muscle disorders 10.8 COL6A1 COL6A3 RYR1
26 muscular dystrophy, limb-girdle, autosomal recessive 8 10.8 DYSF TRIM32 TTN
27 muscular dystrophy, becker type 10.7 DMD DYSF UTRN
28 muscular dystrophy, limb-girdle, autosomal recessive 2 10.7 DYSF TRIM32 TTN
29 autosomal genetic disease 10.7 DMD RYR1 UTRN
30 myositis 10.7 DMD DYSF TTN
31 emery-dreifuss muscular dystrophy 7, autosomal dominant 10.7
32 muscular dystrophy-dystroglycanopathy , type c, 8 10.7
33 diaphragm disease 10.7
34 localized lipodystrophy 10.7 DMD DYSF
35 cardioneuromyopathy with hyaline masses and nemaline rods 10.7 DMD TTN
36 cytoplasmic body myopathy 10.7 DMD UTRN
37 collagen vi-related myopathy 10.7 COL6A1 COL6A3
38 myopathy, centronuclear, 2 10.7 RYR1 TTN
39 myoglobinuria, recurrent 10.7 ACADVL DMD
40 charcot-marie-tooth disease, dominant intermediate b 10.7 DNM2 RYR1
41 spinal muscular atrophy, type iv 10.7 SMN1 SMN2
42 survival motor neuron spinal muscular atrophy 10.7 SMN1 SMN2
43 autosomal recessive limb-girdle muscular dystrophy type 2l 10.7 ANO5 DYSF
44 autosomal recessive limb-girdle muscular dystrophy type 2c 10.7 DMD DYSF
45 arthrogryposis multiplex congenita, neurogenic type 10.7 SMN1 SMN2
46 spinal muscular atrophy, type iii 10.7 SMN1 SMN2
47 spinal muscular atrophy, type ii 10.7 SMN1 SMN2
48 culler-jones syndrome 10.7 SMN1 SMN2
49 tenosynovial giant cell tumor 10.7 COL6A3 SERPINA3
50 autosomal recessive limb-girdle muscular dystrophy type 2a 10.7 DYSF TTN

Graphical network of the top 20 diseases related to Muscular Disease:



Diseases related to Muscular Disease

Symptoms & Phenotypes for Muscular Disease

UMLS symptoms related to Muscular Disease:


muscle weakness, myoclonus, back pain, myalgia, torticollis, sciatica, muscle cramp, joint symptom, muscle rigidity, muscle spasticity, spasmodic torticollis, musculoskeletal symptom, leg cramps

MGI Mouse Phenotypes related to Muscular Disease:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.15 ACADVL ANO5 DMD DYSF EMD GAA
2 cellular MP:0005384 10 ACADVL ANO5 COL6A3 DMD DNM2 EMD
3 cardiovascular system MP:0005385 9.97 ACADVL DMD DNM2 EMD GAA RYR1
4 growth/size/body region MP:0005378 9.93 ACADVL COL6A3 DMD DNM2 GAA POMGNT2
5 homeostasis/metabolism MP:0005376 9.8 ACADVL ANO5 DMD DNM2 DYSF EMD
6 muscle MP:0005369 9.5 ACADVL ANO5 COL6A1 COL6A3 DMD DNM2

Drugs & Therapeutics for Muscular Disease

Drugs for Muscular Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 824)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Telbivudine Approved, Investigational Phase 4 3424-98-4 159269
2
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
3
tannic acid Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 1401-55-4
4
Tenofovir Approved, Experimental, Investigational Phase 4 147127-20-6 464205
5
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 1994-09-7, 94-09-7 2337
6
Pirfenidone Approved, Investigational Phase 4,Phase 3 53179-13-8 40632
7
Prednisolone phosphate Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 302-25-0
8
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 50-24-8 5755
9
Methylprednisolone hemisuccinate Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 2921-57-5
10
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 83-43-2 6741
11
Naltrexone Approved, Investigational, Vet_approved Phase 4,Phase 2,Not Applicable 16590-41-3 5360515
12
Ethanol Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 64-17-5 702
13
Norepinephrine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 51-41-2 439260
14
Levomilnacipran Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 96847-54-0
15
Milnacipran Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 92623-85-3 65833
16
Etoricoxib Approved, Investigational Phase 4,Phase 3,Phase 1 202409-33-4 123619
17
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
18
Ramipril Approved Phase 4 87333-19-5 5362129
19
Cyclobenzaprine Approved Phase 4,Phase 3,Phase 2,Not Applicable 303-53-7 2895
20
Amitriptyline Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 50-48-6 2160
21
Perphenazine Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 58-39-9 4748
22
Gabapentin Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 60142-96-3 3446
23
Acetylcholine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 51-84-3 187
24
Triamcinolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable 124-94-7 31307
25
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 137-58-6 3676
26
Sodium oxybate Approved Phase 4,Phase 3,Phase 2 502-85-2 5360545
27
Dinoprostone Approved Phase 4,Not Applicable 363-24-6 5280360
28
Prednisone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 53-03-2 5865
29
Atorvastatin Approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 134523-00-5 60823
30
Bezafibrate Approved, Investigational Phase 4,Phase 3,Phase 2 41859-67-0 39042
31
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 1177-87-3
32
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 50-02-2 5743
33
Polidocanol Approved Phase 4,Phase 2 9002-92-0
34
Simvastatin Approved Phase 4,Phase 3,Phase 2,Not Applicable 79902-63-9 54454
35
Acetaminophen Approved Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1 103-90-2 1983
36
Pregabalin Approved, Illicit, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 148553-50-8 5486971
37
Dopamine Approved Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1 62-31-7, 51-61-6 681
38
Tramadol Approved, Investigational Phase 4,Phase 3,Phase 2 27203-92-5 33741
39
Tadalafil Approved, Investigational Phase 4,Phase 3,Phase 1,Early Phase 1,Not Applicable 171596-29-5 110635
40
Ibuprofen Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 15687-27-1 3672
41
Propranolol Approved, Investigational Phase 4,Phase 2,Phase 1,Not Applicable 525-66-6 4946
42
Propofol Approved, Investigational, Vet_approved Phase 4,Not Applicable 2078-54-8 4943
43
Baclofen Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 1134-47-0 2284
44
Azathioprine Approved Phase 4,Phase 3,Not Applicable 446-86-6 2265
45
Colchicine Approved Phase 4,Phase 3,Not Applicable 64-86-8 2833 6167
46
Hyaluronic acid Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1,Not Applicable 9004-61-9 53477741
47
Betamethasone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 378-44-9 9782
48
Dronabinol Approved, Illicit Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 1972-08-3 16078
49
Doxycycline Approved, Investigational, Vet_approved Phase 4,Not Applicable 564-25-0 54671203
50
Citalopram Approved Phase 4,Phase 3,Not Applicable 59729-33-8 2771

Interventional clinical trials:

(show top 50) (show all 3241)
# Name Status NCT ID Phase Drugs
1 Identification of Carnitine-Responsive Cardiomyopathy Unknown status NCT01904396 Phase 4 Carnitine
2 Efficacy of Telbivudine With or Without add-on Tenofovir According to Roadmap Strategy Compare With Entecavir Unknown status NCT01588912 Phase 4 Telbivudine;Tenofovir;Entecavir
3 Muscular Electrostimulation of the Sedated and Mechanically Ventilated Critically Ill Patient. Analysis of the Effect on Acquired Muscular Weakness and Its Clinical Consequences. Unknown status NCT02033057 Phase 4
4 Pirfenidone in Progressive Interstitial Lung Disease Associated With Clinically Amyopathic Dermatomyositis Unknown status NCT02821689 Phase 4 Pirfenidone
5 A Randomized Trial to Evaluate the Effectiveness of Transferring the Flexor Hallucis Longus Tendon Unknown status NCT01341509 Phase 4
6 6-Methyl-Prednisolone for Multiple Organ Dysfunction Syndrome Unknown status NCT00127985 Phase 4 6-methyl-prednisolone
7 Low Dose Naltrexone for Treatment of Pain in Patients With Fibromyalgia - Effect Via a Central Mechanism? Unknown status NCT02806440 Phase 4 Low dose naltrexone;Placebo
8 Study of Fibromyalgia Treated With Milnacipran Unknown status NCT01125423 Phase 4 Milnacipran
9 Study Assessing the Efficacy of Etoricoxib in Female Patients With Fibromyalgia Unknown status NCT00755521 Phase 4 etoricoxib
10 The Study of Using Esophageal Pressure to Guide the PEEP Setting in Abdominal Hypertension Patients Who Undergoing Mechanical Ventilation Unknown status NCT01825304 Phase 4
11 Ramipril Versus Carvedilol in Duchenne and Becker Patients Unknown status NCT00819845 Phase 4 carvedilol;ramipril
12 The Preventive Efficacy of Carvedilol on Cardiac Dysfunction in Duchenne Muscular Dystrophy Unknown status NCT00606775 Phase 4 Carvedilol
13 Cyclobenzaprine Extended Release (ER) for Fibromyalgia Unknown status NCT01041495 Phase 4 cyclobenzaprine ER (AMRIX);placebo
14 Prospective, Cross Over Gabapentin vs Amitriptyline Study on Patients Suffering From Masticatory Muscle Pain Unknown status NCT02339662 Phase 4 Gabapentin;Amitriptyline
15 Upper Extremity Rehabilitation Using Robot and Botulinum Toxin Unknown status NCT02228863 Phase 4
16 Corticosteroid Injection Verses High Energy Extracorporeal Shock Wave Therapy for Lateral Epicondylitis Unknown status NCT02613455 Phase 4 Kenalog (triamcinolone);lidocaine 1% (lidocaine HCl 20mg)
17 The Effectiveness of Early Botulinum Toxin A Injection for Lower Limbs Spasticity in Subacute Stroke Adults Unknown status NCT02505802 Phase 4 BoNT-A injection
18 Effects of Functional Electrical Stimulation on Gait in Children With Cerebral Palsy Unknown status NCT02462018 Phase 4
19 Sodium Oxybate in Patients With Chronic Fatigue Syndrome. Unknown status NCT01584934 Phase 4 Sodium oxybate;Placebo
20 Evaluation of the Effects of L-Carnitine Injection in Patients Undergoing Hemodialysis Unknown status NCT00173706 Phase 4 L-Carnitine Injection
21 Rectus Femoris Tenotomy Versus Botulinum Toxin A for Stiff Knee Gait After Stroke Unknown status NCT02114736 Phase 4 Botulinum Toxin injection in the rectus femoris muscle
22 Antispastic Effect of Transcranial Magnetic Stimulation in Patients With Cerebral and Spinal Spasticity Unknown status NCT01786005 Phase 4
23 The Immune and Clinical Impacts of Vitamin D in Patients With Chronic Musculo-skeletal Pain Unknown status NCT01417923 Phase 4 vitamin D
24 Steroids Pharmacokinetics and the Response to Prednisone Therapy in Giant Cell Arteritis Unknown status NCT01400464 Phase 4 Prednisone therapy and pharmacokinetic
25 Nasal Continuous Positive Airway Pressure (CPAP) in Chronic Fatigue and Sleep-disordered Breathing Unknown status NCT01368718 Phase 4
26 Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases Unknown status NCT01151644 Phase 4
27 Differences in Atorvastatin Metabolite Ratios as a Diagnostic Tool in Detecting Atorvastatin Induced Myotoxicity Completed NCT00199745 Phase 4 atorvastatin
28 The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM) Completed NCT01527318 Phase 4 Fibrate treatment
29 Association Between Systemic Exposure of Atorvastatin and Metabolites and Atorvastatin-induced Myotoxicity Completed NCT00120055 Phase 4 Atorvastatin (Lipitor)
30 Investigations on Differences in Atorvastatin Metabolites Ratios as a Diagnostic Tool in Detecting Atorvastatin Induced Myotoxicity Completed NCT00414531 Phase 4 Atorvastatin
31 Using Clonidine to Improve Leg Weakness in People With Heart Failure Completed NCT00858845 Phase 4 Clonidine Patch
32 Two Different Dosages of Nebulized Steroid Versus Parenteral Steroid in the Management of COPD Exacerbations Completed NCT01865500 Phase 4 Budesonide 4 mg;Budesonide 8 mg;Metil prednisolone
33 Effects of Vitamin D Supplementation in Obesity Completed NCT01037140 Phase 4 Cholecalciferol;placebo
34 Effect of Gemfibrozil on the Safety and Pharmacokinetics of Red Yeast Rice in Healthy Subjects Completed NCT01385020 Phase 4 Gemfibrozil & red yeast rice (LipoCol)
35 Early Goal-Directed Nutrition in ICU Patients - EAT-ICU Trial Completed NCT01372176 Phase 4
36 Relation Between Intrabdominal Pressure and Collapsibility Index of Inferior Vena Cava Before and After Fluid Therapy Completed NCT01553422 Phase 4
37 Shockwave Therapy of Chronic Achilles Tendinopathy Completed NCT00958620 Phase 4
38 Long Term Effectiveness of Trigger Finger Injections With Triamcinolone vs. Dexamethasone Completed NCT03641508 Phase 4 Triamcinolone;Dexamethasone
39 "NSAIDs in Acute Achilles Tendinopathy: Effect on Pain Control, Leg Stiffness and Functional Recovery in Athletes" Completed NCT00792376 Phase 4 etoricoxib;diclofenac
40 The Value of Platelet-Rich Plasma in Chronic Midportion Achilles Tendinopathy: a Double-blind Randomized Clinical Trial Completed NCT00761423 Phase 4
41 Achilles Tendinosis Study; Comparison of Radiofrequency to Surgical MicroDebridement Completed NCT00534781 Phase 4
42 The Efficacy of Polidocanol Injections as a Treatment of Chronic Achilles. Tendinopathy Completed NCT00377910 Phase 4 Aethoxysclerol
43 Colloids in Severe Trauma Completed NCT00890383 Phase 4 tetrastarch (Voluven)
44 Assessing the Role of "Statin" Therapy and Perioperative Inflammatory Response in Patients Undergoing Major Orthopedic Surgery Completed NCT00656292 Phase 4 Simvastatin;Placebo
45 MuscleCare™ Pain Relief Therapy vs. Voltaren® in the Relief of Trapezius Trigger Point Musculoskeletal Pain. Completed NCT03939884 Phase 4 MuscleCare Topical Product;Voltaren Topical;Nivea, Topical Cream
46 Comparison of Efficacy of Intravenous Paracetamol and Dexketoprofen for Acute Traumatic Musculoskeletal Pain Completed NCT03428503 Phase 4 Paracetamol;Dexketoprofen
47 Comparison of Efficacy of Intravenous Paracetamol and Dexketoprofen for Acute Nontraumatic Musculoskeletal Pain Completed NCT03122314 Phase 4 Paracetamol;Dexketoprofen
48 Discomfort and Psychosocial Difficulties in Fibromyalgia Completed NCT02078791 Phase 4 Botox infiltration
49 Strengthening Exercises for Fibromyalgia Completed NCT02063750 Phase 4
50 Heart Rate Variability in Fibromyalgia - Effects of Strengthening Exercises Completed NCT02004405 Phase 4

Search NIH Clinical Center for Muscular Disease

Genetic Tests for Muscular Disease

Genetic tests related to Muscular Disease:

# Genetic test Affiliating Genes
1 Muscular Diseases 30

Anatomical Context for Muscular Disease

MalaCards organs/tissues related to Muscular Disease:

42
Brain, Testes, Spinal Cord, Heart, Skeletal Muscle, Bone, Breast

Publications for Muscular Disease

Articles related to Muscular Disease:

(show top 50) (show all 79)
# Title Authors Year
1
Coexistence of a CAV3 mutation and a DMD deletion in a family with complex muscular diseases. ( 30723005 )
2019
2
Electrophysiological and histopathological findings of muscular disease suspected as myotonic dystrophy in a Shiba dog. ( 29311426 )
2018
3
Does muscle biopsy change the treatment of pediatric muscular disease? ( 29845315 )
2018
4
Application of Quantitative Pharmacology Approaches in Bridging Pharmacokinetics and Pharmacodynamics of Domagrozumab From Adult Healthy Subjects to Pediatric Patients With Duchenne Muscular Disease. ( 29023829 )
2017
5
Ageing with Muscular Disease. ( 28144383 )
2016
6
Statistical insights into major human muscular diseases. ( 24569163 )
2014
7
Prediction of rare single-nucleotide causative mutations for muscular diseases in pooled next-generation sequencing experiments. ( 25029289 )
2014
8
Use of mid-humeral block of the radial, ulnar, musculocutaneous and median (RUMM block) nerves for extensor carpi radialis muscle biopsy in a conscious dog with generalized neuro-muscular disease. ( 22574755 )
2012
9
Aminotransferases and muscular diseases: a disregarded lesson. Case reports and review of the literature. ( 20500440 )
2012
10
An animal model to study human muscular diseases involving mitochondrial oxidative phosphorylation. ( 22706663 )
2012
11
Canine muscle cell culture and consecutive patch-clamp measurements - a new approach to characterize muscular diseases in dogs. ( 23171640 )
2012
12
Wilmington robotic exoskeleton: a novel device to maintain arm improvement in muscular disease. ( 21654447 )
2011
13
Functional imaging in muscular diseases. ( 22347980 )
2011
14
HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). ( 21810866 )
2011
15
Evidence report: Genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society. ( 21956720 )
2011
16
HyperCKemia as a biomarker for muscular diseases. ( 20499036 )
2010
17
One-hundred-seventy-five years of Neapolitan contributions to the fight against the muscular diseases. ( 21574522 )
2010
18
Zebrafish muscular disease models towards drug discovery. ( 23485083 )
2009
19
Using immunoglobulins in muscular disease treatment. ( 18613765 )
2008
20
Stem cells and plasticity of skeletal muscle cell differentiation: potential application to cell therapy for degenerative muscular diseases. ( 17511561 )
2007
21
Bibliography. Current world literature. Neuro-muscular diseases: nerve. ( 17885452 )
2007
22
Bibliography. Current world literature. Neuro-muscular diseases: muscle. ( 17933070 )
2007
23
Cardiac treatment in neuro-muscular diseases. ( 17626520 )
2006
24
Proteolysis of beta-dystroglycan in muscular diseases. ( 15833425 )
2005
25
Gene therapy for muscular disease. ( 15364061 )
2004
26
Hereditary muscular diseases and symptoms from the gastrointestinal tract. ( 14992554 )
2004
27
Clinical laboratory monitoring of coenzyme Q10 use in neurologic and muscular diseases. ( 15298157 )
2004
28
Coping with illness-related problems in persons with progressive muscular diseases: the Swedish version of the Ways of Coping Questionnaire. ( 12445106 )
2002
29
A novel myopathy-associated mitochondrial DNA mutation altering the conserved size of the tRNA(Gln) anticodon loop. ( 10996779 )
2000
30
Neurotrophic factors and neuro-muscular disease: II. GDNF, other neurotrophic factors, and future directions. ( 10417781 )
1999
31
What is the future for intramuscular administration of basic fibroblast growth factor in muscular diseases? ( 8995596 )
1997
32
Analysis of dystrophin in muscular diseases by two-dimensional gel electrophoresis using agarose gels in the first dimension. ( 8711982 )
1996
33
Is camptocormia a primary muscular disease? ( 7631230 )
1995
34
Current concepts review. The diagnosis and orthopaedic treatment of inherited muscular diseases of childhood. ( 7713984 )
1995
35
Swallowing disorders in muscular diseases: functional assessment and indications of cricopharyngeal myotomy. ( 8162870 )
1994
36
Automatic diagnosis of neuro-muscular diseases using neural network. ( 7948644 )
1994
37
The diagnosis and orthopaedic treatment of inherited muscular diseases of childhood. ( 8444925 )
1993
38
A mitochondrial tRNA anticodon swap associated with a muscle disease. ( 7689388 )
1993
39
Patients with neuro-muscular diseases: socio-psychological aspects. ( 1938027 )
1991
40
Cytochrome c oxidase deficient fibres in the limb muscle and diaphragm of man without muscular disease: an age-related alteration. ( 1965203 )
1990
41
Animal models utilized in research on muscular diseases in Japan. ( 3601989 )
1987
42
Basic and clinical studies on mouth occlusion pressure in healthy subjects and patients with pulmonary and muscular diseases. ( 7182382 )
1982
43
X-ray diagnostic sign for the differentiation of neurogenic and primary muscular diseases. ( 6213474 )
1981
44
Simple electrophoretic technique for creatine kinase MM isozyme in neonatal Duchenne muscular disease screening using dried blood samples. ( 7398089 )
1980
45
Use of X-ray techniques to demonstrate electively increased damage to certain muscles in patients suffering from muscular diseases. ( 6451530 )
1980
46
Mitochondrial abnormalities in some human muscular diseases and in experimental ischemic myopathy. ( 616300 )
1977
47
Choline acetyltransferase activity in human muscular diseases. ( 55474 )
1976
48
The influence of cysteine, reduced glutathione and 2-mercaptoethanol on creatine phosphokinase activity in muscular diseases. ( 963897 )
1976
49
Correction of severe open-bite associated with muscular disease. Report of a case. ( 1054459 )
1975
50
Spontaneous volleys of bizarre high frequency potentials (b.h.f.p.) in neuro-muscular diseases. Part 1. Occurrence of spontaneous volleys of b.h.f.p. in neuro-muscular diseases. ( 4434896 )
1974

Variations for Muscular Disease

ClinVar genetic disease variations for Muscular Disease:

6 (show top 50) (show all 112)
# Gene Variation Type Significance SNP ID Assembly Location
1 ANO5 NM_213599.2(ANO5): c.191dupA (p.Asn64Lysfs) duplication Pathogenic/Likely pathogenic rs137854521 GRCh37 Chromosome 11, 22242653: 22242653
2 ANO5 NM_213599.2(ANO5): c.191dupA (p.Asn64Lysfs) duplication Pathogenic/Likely pathogenic rs137854521 GRCh38 Chromosome 11, 22221107: 22221107
3 GAA NM_000152.4(GAA): c.-32-13T> G single nucleotide variant Pathogenic rs386834236 GRCh37 Chromosome 17, 78078341: 78078341
4 GAA NM_000152.4(GAA): c.-32-13T> G single nucleotide variant Pathogenic rs386834236 GRCh38 Chromosome 17, 80104542: 80104542
5 MT-TQ m.4369_4370insA duplication Pathogenic rs199476140 GRCh38 Chromosome MT, 4369: 4369
6 SCN4A NM_000334.4(SCN4A): c.2024G> A (p.Arg675Gln) single nucleotide variant Pathogenic rs121908557 GRCh37 Chromosome 17, 62034874: 62034874
7 SCN4A NM_000334.4(SCN4A): c.2024G> A (p.Arg675Gln) single nucleotide variant Pathogenic rs121908557 GRCh38 Chromosome 17, 63957514: 63957514
8 DNM2 NM_001005360.2(DNM2): c.1102G> A (p.Glu368Lys) single nucleotide variant Pathogenic rs121909092 GRCh37 Chromosome 19, 10904505: 10904505
9 DNM2 NM_001005360.2(DNM2): c.1102G> A (p.Glu368Lys) single nucleotide variant Pathogenic rs121909092 GRCh38 Chromosome 19, 10793829: 10793829
10 TRIM32 NM_001099679.1(TRIM32): c.1459G> A (p.Asp487Asn) single nucleotide variant Pathogenic rs111033570 GRCh37 Chromosome 9, 119461480: 119461480
11 TRIM32 NM_001099679.1(TRIM32): c.1459G> A (p.Asp487Asn) single nucleotide variant Pathogenic rs111033570 GRCh38 Chromosome 9, 116699201: 116699201
12 RAPSN NM_032645.4(RAPSN): c.264C> A (p.Asn88Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs104894299 GRCh37 Chromosome 11, 47469631: 47469631
13 RAPSN NM_032645.4(RAPSN): c.264C> A (p.Asn88Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs104894299 GRCh38 Chromosome 11, 47448079: 47448079
14 RAPSN NM_005055.4(RAPSN): c.490C> T (p.Arg164Cys) single nucleotide variant Likely pathogenic rs104894294 GRCh37 Chromosome 11, 47469405: 47469405
15 RAPSN NM_005055.4(RAPSN): c.490C> T (p.Arg164Cys) single nucleotide variant Likely pathogenic rs104894294 GRCh38 Chromosome 11, 47447853: 47447853
16 MT-TQ m.4369_4370insA duplication Pathogenic rs199476140 GRCh37 Chromosome MT, 4369: 4369
17 MT-TP m.15990C> T single nucleotide variant Pathogenic rs199474699 GRCh37 Chromosome MT, 15990: 15990
18 MT-TP m.15990C> T single nucleotide variant Pathogenic rs199474699 GRCh38 Chromosome MT, 15990: 15990
19 CLCN1 NM_000083.2(CLCN1): c.2680C> T (p.Arg894Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs55960271 GRCh37 Chromosome 7, 143048771: 143048771
20 CLCN1 NM_000083.2(CLCN1): c.2680C> T (p.Arg894Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs55960271 GRCh38 Chromosome 7, 143351678: 143351678
21 CAPN3; SGCB NM_000070.3(CAPN3): c.549delA (p.Thr184Argfs) deletion Pathogenic rs80338800 GRCh37 Chromosome 15, 42680002: 42680002
22 CAPN3; SGCB NM_000070.3(CAPN3): c.549delA (p.Thr184Argfs) deletion Pathogenic rs80338800 GRCh38 Chromosome 15, 42387804: 42387804
23 COL6A2 NM_001849.3(COL6A2): c.2489G> A (p.Arg830Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs139552940 GRCh37 Chromosome 21, 47551895: 47551895
24 COL6A2 NM_001849.3(COL6A2): c.2489G> A (p.Arg830Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs139552940 GRCh38 Chromosome 21, 46131981: 46131981
25 DES NM_001927.3(DES): c.407T> A (p.Leu136His) single nucleotide variant Uncertain significance rs397516695 GRCh37 Chromosome 2, 220283591: 220283591
26 DES NM_001927.3(DES): c.407T> A (p.Leu136His) single nucleotide variant Uncertain significance rs397516695 GRCh38 Chromosome 2, 219418869: 219418869
27 TTN NM_001256850.1(TTN): c.76976G> A (p.Arg25659His) single nucleotide variant Conflicting interpretations of pathogenicity rs55850344 GRCh37 Chromosome 2, 179428960: 179428960
28 TTN NM_001256850.1(TTN): c.76976G> A (p.Arg25659His) single nucleotide variant Conflicting interpretations of pathogenicity rs55850344 GRCh38 Chromosome 2, 178564233: 178564233
29 TTN NM_001267550.2(TTN): c.93803A> C (p.Lys31268Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs200766837 GRCh38 Chromosome 2, 178547823: 178547823
30 TTN NM_001267550.2(TTN): c.93803A> C (p.Lys31268Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs200766837 GRCh37 Chromosome 2, 179412550: 179412550
31 TTN NM_133378.4(TTN): c.65900C> A (p.Ser21967Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs201804005 GRCh37 Chromosome 2, 179437255: 179437255
32 TTN NM_133378.4(TTN): c.65900C> A (p.Ser21967Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs201804005 GRCh38 Chromosome 2, 178572528: 178572528
33 MYH7 NM_000257.3(MYH7): c.2572C> T (p.Arg858Cys) single nucleotide variant Likely pathogenic rs2754158 GRCh37 Chromosome 14, 23894085: 23894085
34 MYH7 NM_000257.3(MYH7): c.2572C> T (p.Arg858Cys) single nucleotide variant Likely pathogenic rs2754158 GRCh38 Chromosome 14, 23424876: 23424876
35 TTN NM_133378.4(TTN): c.33817G> A (p.Asp11273Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs201257644 GRCh37 Chromosome 2, 179500777: 179500777
36 TTN NM_133378.4(TTN): c.33817G> A (p.Asp11273Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs201257644 GRCh38 Chromosome 2, 178636050: 178636050
37 TTN NM_001256850.1(TTN): c.102712C> T (p.Gln34238Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs757082154 GRCh37 Chromosome 2, 179392218: 179392218
38 TTN