MCID: MSC190
MIFTS: 55

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 are Cardiac conduction and Dilated cardiomyopathy (DCM). The drugs Telbivudine and tannic acid 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 79)
# Related Disease Score Top Affiliating Genes
1 myopathy 33.8 COL6A1 COL6A3 DYSF EMD GAA RYR1
2 muscular dystrophy 30.9 ANO5 COL6A1 COL6A3 DMD DYSF EMD
3 atrophic muscular disease 11.9
4 neuromuscular disease 10.9 DMD EMD GAA LAMA2 RYR1 SCN4A
5 muscle tissue disease 10.9 COL6A1 DMD DYSF EMD GAA LAMA2
6 muscular dystrophy, congenital, lmna-related 10.9 COL6A1 COL6A3 DMD EMD LAMA2 TTN
7 rigid spine muscular dystrophy 1 10.9 DMD DYSF GAA LAMA2 RYR1 TTN
8 limb-girdle muscular dystrophy 10.8 ANO5 DMD DYSF LAMA2 TRIM32 TTN
9 myopathy, congenital 10.8 DMD DNM2 DYSF GAA RYR1
10 atrial standstill 1 10.8 ACADVL DMD EMD GAA TTN
11 miyoshi muscular dystrophy 10.8 ANO5 DMD DYSF LAMA2 TTN
12 isolated hyperckemia 10.8 ANO5 DMD GAA LAMA2
13 creatine phosphokinase, elevated serum 10.8 ANO5 DMD GAA LAMA2
14 myopathy, x-linked, with excessive autophagy 10.8 DMD EMD GAA LAMA2
15 muscular dystrophy, limb-girdle, autosomal recessive 7 10.8 DMD DYSF TRIM32 TTN
16 centronuclear myopathy 10.8 DMD DNM2 RYR1 TTN
17 muscular dystrophy, limb-girdle, autosomal recessive 6 10.8 DMD DYSF TRIM32 TTN
18 congenital fiber-type disproportion 10.8 DMD DYSF EMD RYR1
19 muscular dystrophy-dystroglycanopathy , type c, 5 10.8 DYSF LAMA2 TRIM32 TTN
20 autosomal recessive limb-girdle muscular dystrophy 10.8 ANO5 DMD DYSF TRIM32
21 bethlem myopathy 1 10.8 COL6A1 COL6A3 DMD DYSF
22 muscular dystrophy, becker type 10.8 DMD DYSF LAMA2 UTRN
23 arrhythmogenic right ventricular cardiomyopathy 10.8 DMD EMD RYR1 TTN
24 peripheral nervous system disease 10.8 DNM2 SMN1 SMN2 TTN
25 myopathy, proximal, and ophthalmoplegia 10.8 COL6A1 EMD RYR1
26 muscle disorders 10.8 COL6A1 COL6A3 RYR1
27 muscular dystrophy, limb-girdle, autosomal recessive 8 10.8 DYSF TRIM32 TTN
28 metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 10.8 ACADVL RYR1 SCN4A
29 cardiomyopathy, dilated, 1a 10.8 DMD EMD LAMA2
30 ullrich congenital muscular dystrophy 1 10.8 COL6A1 COL6A3 LAMA2
31 muscular dystrophy, limb-girdle, autosomal recessive 2 10.7 DYSF TRIM32 TTN
32 autosomal genetic disease 10.7 DMD RYR1 UTRN
33 myositis 10.7 DMD DYSF TTN
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 respiratory failure 10.7 GAA LAMA2 TTN
40 myoglobinuria, recurrent 10.7 ACADVL DMD
41 emery-dreifuss muscular dystrophy 7, autosomal dominant 10.7
42 muscular dystrophy-dystroglycanopathy , type c, 8 10.7
43 diaphragm disease 10.7
44 charcot-marie-tooth disease, dominant intermediate b 10.7 DNM2 RYR1
45 cardiomyopathy, dilated, 1b 10.7 DMD LAMA2
46 spinal muscular atrophy, type iv 10.7 SMN1 SMN2
47 survival motor neuron spinal muscular atrophy 10.7 SMN1 SMN2
48 autosomal recessive limb-girdle muscular dystrophy type 2l 10.7 ANO5 DYSF
49 muscular dystrophy, congenital, 1b 10.7 DMD LAMA2
50 arthrogryposis multiplex congenita, neurogenic type 10.7 SMN1 SMN2

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 10.22 ACADVL ANO5 DMD DYSF EMD GAA
2 cellular MP:0005384 10.06 ACADVL ANO5 COL6A3 DMD DNM2 EMD
3 growth/size/body region MP:0005378 10.03 ACADVL COL6A3 DMD DNM2 GAA LAMA2
4 cardiovascular system MP:0005385 10.02 ACADVL DMD DNM2 EMD GAA RYR1
5 homeostasis/metabolism MP:0005376 10 ACADVL ANO5 DMD DNM2 DYSF EMD
6 muscle MP:0005369 9.86 ACADVL ANO5 COL6A1 COL6A3 DMD DNM2
7 skeleton MP:0005390 9.23 COL6A3 DMD GAA LAMA2 RYR1 SMN2

Drugs & Therapeutics for Muscular Disease

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

(show top 50) (show all 827)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Telbivudine Approved, Investigational Phase 4 3424-98-4 159269
2
tannic acid Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 1401-55-4
3
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 94-09-7, 1994-09-7 2337
4
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
5
Pirfenidone Approved, Investigational Phase 4,Phase 3 53179-13-8 40632
6
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 50-24-8 5755
7
Prednisolone phosphate Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 302-25-0
8
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 83-43-2 6741
9
Methylprednisolone hemisuccinate Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 2921-57-5
10
Naltrexone Approved, Investigational, Vet_approved Phase 4,Phase 2,Not Applicable 16590-41-3 5360515
11
Ethanol Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 64-17-5 702
12
Norepinephrine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 51-41-2 439260
13
Levomilnacipran Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 96847-54-0
14
Milnacipran Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 92623-85-3 65833
15
Etoricoxib Approved, Investigational Phase 4,Phase 3,Phase 1 202409-33-4 123619
16
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
17
Ramipril Approved Phase 4 87333-19-5 5362129
18
Amitriptyline Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 50-48-6 2160
19
Cyclobenzaprine Approved Phase 4,Phase 3,Phase 2,Not Applicable 303-53-7 2895
20
Gabapentin Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 60142-96-3 3446
21
Perphenazine Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 58-39-9 4748
22
Acetylcholine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 51-84-3 187
23
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 137-58-6 3676
24
Triamcinolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 124-94-7 31307
25
Sodium oxybate Approved Phase 4,Phase 3,Phase 2 502-85-2 5360545
26
Dinoprostone Approved Phase 4,Not Applicable 363-24-6 5280360
27
Prednisone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 53-03-2 5865
28
Atorvastatin Approved Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 134523-00-5 60823
29
Simvastatin Approved Phase 4,Phase 3,Phase 2,Not Applicable 79902-63-9 54454
30
Bezafibrate Approved, Investigational Phase 4,Phase 3,Phase 2 41859-67-0 39042
31
Abatacept Approved Phase 4,Phase 3,Phase 2,Early Phase 1 332348-12-6 10237
32
Betamethasone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 378-44-9 9782
33
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 1177-87-3
34
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 50-02-2 5743
35
Polidocanol Approved Phase 4,Phase 2 9002-92-0
36
Acetaminophen Approved Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1 103-90-2 1983
37
Dopamine Approved Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1 62-31-7, 51-61-6 681
38
Pregabalin Approved, Illicit, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 148553-50-8 5486971
39
Tramadol Approved, Investigational Phase 4,Phase 3,Phase 2 27203-92-5 33741
40
Propofol Approved, Investigational, Vet_approved Phase 4,Not Applicable 2078-54-8 4943
41
Tadalafil Approved, Investigational Phase 4,Phase 3,Phase 1,Early Phase 1,Not Applicable 171596-29-5 110635
42
Hyaluronic acid Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1,Not Applicable 9004-61-9 53477741
43
Ibuprofen Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 15687-27-1 3672
44
Baclofen Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 1134-47-0 2284
45
Propranolol Approved, Investigational Phase 4,Phase 2,Phase 1,Not Applicable 525-66-6 4946
46
Azathioprine Approved Phase 4,Phase 3,Not Applicable 446-86-6 2265
47
Ropivacaine Approved Phase 4,Not Applicable 84057-95-4 71273 175805
48
Tocopherol Approved, Investigational Phase 4,Phase 2,Not Applicable 1406-66-2 14986
49
Nitroglycerin Approved, Investigational Phase 4,Phase 2,Not Applicable 55-63-0 4510
50
Colchicine Approved Phase 4,Phase 3,Not Applicable 64-86-8 6167 2833

Interventional clinical trials:

(show top 50) (show all 3168)
# 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 Comparative Study of Strategies for Management of Duchenne Myopathy (DM) Not yet recruiting NCT03633565 Phase 4 Sildenafil (Phosphodiesterase inhibitors);Prednisolone (Steroids)
28 Is Myopathy Part of Statin Therapy (IMPOSTER-16) Terminated NCT00127335 Phase 4 cellulose placebo vs. atorvastatin
29 Differences in Atorvastatin Metabolite Ratios as a Diagnostic Tool in Detecting Atorvastatin Induced Myotoxicity Completed NCT00199745 Phase 4 atorvastatin
30 Quality of Life in Patients With Statin-Associated Myopathy Terminated NCT00850460 Phase 4 Statins;Placebo
31 The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM) Completed NCT01527318 Phase 4 Fibrate treatment
32 Association Between Systemic Exposure of Atorvastatin and Metabolites and Atorvastatin-induced Myotoxicity Completed NCT00120055 Phase 4 Atorvastatin (Lipitor)
33 Investigations on Differences in Atorvastatin Metabolites Ratios as a Diagnostic Tool in Detecting Atorvastatin Induced Myotoxicity Completed NCT00414531 Phase 4 Atorvastatin
34 Neurosciences-Intensive Care Unit Electrical Stimulation Recruiting NCT03547687 Phase 4
35 Using Clonidine to Improve Leg Weakness in People With Heart Failure Completed NCT00858845 Phase 4 Clonidine Patch
36 TOM: Testosterone in Older Men With Sarcopenia Terminated NCT00240981 Phase 4 Topical testosterone gel 1% (active formulation);Topical gel (placebo formulation)
37 Ramipril Treatment of Claudication Recruiting NCT02842424 Phase 4 Ramipril
38 NIRS to Diagnose SAMS Recruiting NCT03653663 Phase 4 Simvastatin 20 mg;Placebo Oral Tablet
39 Treatment of Delirium in the Elderly With Donepezil: a Double-blind, Randomized, Placebo-controlled Clinical Trial Terminated NCT01633593 Phase 4 Donepezil
40 Is Treatment of Vitamin D Deficiency Associated With Resolution of Statin-Induced Muscular Symptoms Recruiting NCT01568255 Phase 4 Ergocalciferol;Placebo
41 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
42 Effects of Vitamin D Supplementation in Obesity Completed NCT01037140 Phase 4 Cholecalciferol;placebo
43 Effect of Gemfibrozil on the Safety and Pharmacokinetics of Red Yeast Rice in Healthy Subjects Completed NCT01385020 Phase 4 Gemfibrozil & red yeast rice (LipoCol)
44 Abatacept in Juvenile Dermatomyositis Recruiting NCT02594735 Phase 4 Abatacept
45 Desipramine in Infantile Neuroaxonal Dystrophy (INAD). Enrolling by invitation NCT03726996 Phase 4 Desipramine
46 Early Goal-Directed Nutrition in ICU Patients - EAT-ICU Trial Completed NCT01372176 Phase 4
47 Corticosteroid(CS) + Lido or Corticosteroid(CS) Alone Recruiting NCT03704584 Phase 4 Treatment Group (corticosteroid injection plus lidocaine);Control Group (corticosteroid alone)
48 Ultrasound-guided Injection for DeQuervain's Recruiting NCT02038634 Phase 4 Betamethasone
49 The Efficacy of Brisement Compared to Physical Therapy for the Treatment of Achilles Tendinosis Not yet recruiting NCT03363789 Phase 4
50 A Dynamic Elastic Garment (DEG) in Patients With Rotator Cuff Tendinopathy Recruiting NCT03032432 Phase 4 Corticosteroid injection

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 72)
# Title Authors Year
1
Coexistence of a CAV3 mutation and a DMD deletion in a family with complex muscular diseases. ( 30723005 )
2019
2
Does muscle biopsy change the treatment of pediatric muscular disease? ( 29845315 )
2018
3
Electrophysiological and histopathological findings of muscular disease suspected as myotonic dystrophy in a Shiba dog. ( 29311426 )
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
HyperCKemia as a biomarker for muscular diseases. ( 20499036 )
2010
15
One-hundred-seventy-five years of Neapolitan contributions to the fight against the muscular diseases. ( 21574522 )
2010
16
Zebrafish muscular disease models towards drug discovery. ( 23485083 )
2009
17
Using immunoglobulins in muscular disease treatment. ( 18613765 )
2008
18
Stem cells and plasticity of skeletal muscle cell differentiation: potential application to cell therapy for degenerative muscular diseases. ( 17511561 )
2007
19
Bibliography. Current world literature. Neuro-muscular diseases: nerve. ( 17885452 )
2007
20
Bibliography. Current world literature. Neuro-muscular diseases: muscle. ( 17933070 )
2007
21
Cardiac treatment in neuro-muscular diseases. ( 17626520 )
2006
22
Gene therapy for muscular disease. ( 15364061 )
2004
23
Hereditary muscular diseases and symptoms from the gastrointestinal tract. ( 14992554 )
2004
24
Clinical laboratory monitoring of coenzyme Q10 use in neurologic and muscular diseases. ( 15298157 )
2004
25
Coping with illness-related problems in persons with progressive muscular diseases: the Swedish version of the Ways of Coping Questionnaire. ( 12445106 )
2002
26
Neurotrophic factors and neuro-muscular disease: II. GDNF, other neurotrophic factors, and future directions. ( 10417781 )
1999
27
What is the future for intramuscular administration of basic fibroblast growth factor in muscular diseases? ( 8995596 )
1997
28
Is camptocormia a primary muscular disease? ( 7631230 )
1995
29
Current concepts review. The diagnosis and orthopaedic treatment of inherited muscular diseases of childhood. ( 7713984 )
1995
30
Automatic diagnosis of neuro-muscular diseases using neural network. ( 7948644 )
1994
31
The diagnosis and orthopaedic treatment of inherited muscular diseases of childhood. ( 8444925 )
1993
32
Patients with neuro-muscular diseases: socio-psychological aspects. ( 1938027 )
1991
33
Cytochrome c oxidase deficient fibres in the limb muscle and diaphragm of man without muscular disease: an age-related alteration. ( 1965203 )
1990
34
Animal models utilized in research on muscular diseases in Japan. ( 3601989 )
1987
35
Basic and clinical studies on mouth occlusion pressure in healthy subjects and patients with pulmonary and muscular diseases. ( 7182382 )
1982
36
X-ray diagnostic sign for the differentiation of neurogenic and primary muscular diseases. ( 6213474 )
1981
37
Simple electrophoretic technique for creatine kinase MM isozyme in neonatal Duchenne muscular disease screening using dried blood samples. ( 7398089 )
1980
38
Use of X-ray techniques to demonstrate electively increased damage to certain muscles in patients suffering from muscular diseases. ( 6451530 )
1980
39
Mitochondrial abnormalities in some human muscular diseases and in experimental ischemic myopathy. ( 616300 )
1977
40
Choline acetyltransferase activity in human muscular diseases. ( 55474 )
1976
41
The influence of cysteine, reduced glutathione and 2-mercaptoethanol on creatine phosphokinase activity in muscular diseases. ( 963897 )
1976
42
Correction of severe open-bite associated with muscular disease. Report of a case. ( 1054459 )
1975
43
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
44
Spontaneous volleys of bizarre high-frequency potentials (b.h.f.p.) in neuro-muscular diseases. Part II. An analysis of the morphology of spontaneous volleys of bizarre high-frequency potentials in neuro-muscular diseases. ( 4452338 )
1974
45
Myoglobin in primary muscular disease. I. Duchenne muscular dystrophy. II. Muscular dystrophy of distal type. ( 4590363 )
1973
46
Genetic approaches to the nosology of muscular disease: myotonias and similar diseases. ( 5293617 )
1971
47
Frequency analysis of the EMG in neuro-muscular diseases. ( 4103189 )
1971
48
Structural changes in muscle cells in various neuro-muscular diseases. ( 5573901 )
1971
49
Strabismus as a possible sign of latent muscular disease predisposing to suxamethonium-induced muscular injury. ( 5450203 )
1970
50
Local enzymatic changes in muscle fibre in muscular diseases. ( 4320094 )
1970

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 TTN NM_001267550.2(TTN): c.93803A> C (p.Lys31268Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs200766837 GRCh38 Chromosome 2, 178547823: 178547823
2 TTN NM_001267550.2(TTN): c.93803A> C (p.Lys31268Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs200766837 GRCh37 Chromosome 2, 179412550: 179412550
3 TTN NM_133378.4(TTN): c.65900C> A (p.Ser21967Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs201804005 GRCh37 Chromosome 2, 179437255: 179437255
4 TTN NM_133378.4(TTN): c.65900C> A (p.Ser21967Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs201804005 GRCh38 Chromosome 2, 178572528: 178572528
5 MYH7 NM_000257.3(MYH7): c.2572C> T (p.Arg858Cys) single nucleotide variant Likely pathogenic rs2754158 GRCh37 Chromosome 14, 23894085: 23894085
6 MYH7 NM_000257.3(MYH7): c.2572C> T (p.Arg858Cys) single nucleotide variant Likely pathogenic rs2754158 GRCh38 Chromosome 14, 23424876: 23424876
7 TTN NM_133378.4(TTN): c.33817G> A (p.Asp11273Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs201257644 GRCh37 Chromosome 2, 179500777: 179500777
8 TTN NM_133378.4(TTN): c.33817G> A (p.Asp11273Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs201257644 GRCh38 Chromosome 2, 178636050: 178636050
9 TTN NM_001256850.1(TTN): c.102712C> T (p.Gln34238Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs757082154 GRCh37 Chromosome 2, 179392218: 179392218
10 TTN NM_001256850.1(TTN): c.102712C> T (p.Gln34238Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs757082154 GRCh38 Chromosome 2, 178527491: 178527491
11 TTN NM_133378.4(TTN): c.25513C> T (p.Gln8505Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs746721983 GRCh38 Chromosome 2, 178706629: 178706629
12 TTN NM_133378.4(TTN): c.25513C> T (p.Gln8505Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs746721983 GRCh37 Chromosome 2, 179571356: 179571356
13 ACADVL NM_000018.4(ACADVL): c.1376G> A (p.Arg459Gln) single nucleotide variant Pathogenic/Likely pathogenic rs751995154 GRCh37 Chromosome 17, 7127330: 7127330
14 ACADVL NM_000018.4(ACADVL): c.1376G> A (p.Arg459Gln) single nucleotide variant Pathogenic/Likely pathogenic rs751995154 GRCh38 Chromosome 17, 7224011: 7224011
15 TPM3 NM_152263.3(TPM3): c.734G> T (p.Arg245Ile) single nucleotide variant Likely pathogenic rs797046047 GRCh37 Chromosome 1, 154142917: 154142917
16 TPM3 NM_152263.3(TPM3): c.734G> T (p.Arg245Ile) single nucleotide variant Likely pathogenic rs797046047 GRCh38 Chromosome 1, 154170441: 154170441
17 TTN NM_133378.4(TTN): c.34782_34785del (p.Cys11595Asnfs) deletion Pathogenic rs797046064 GRCh38 Chromosome 2, 178634010: 178634013
18 TTN NM_133378.4(TTN): c.34782_34785del (p.Cys11595Asnfs) deletion Pathogenic rs797046064 GRCh37 Chromosome 2, 179498737: 179498740
19 TTN NM_001267550.2(TTN): c.23903_23904delGCinsA (p.Gly7968Glufs) indel Pathogenic rs797046060 GRCh37 Chromosome 2, 179584315: 179584316
20 TTN NM_001267550.2(TTN): c.23903_23904delGCinsA (p.Gly7968Glufs) indel Pathogenic rs797046060 GRCh38 Chromosome 2, 178719588: 178719589
21 COL6A3 NM_004369.3(COL6A3): c.6181C> T (p.Arg2061Ter) single nucleotide variant Pathogenic rs797045479 GRCh38 Chromosome 2, 237361150: 237361150
22 COL6A3 NM_004369.3(COL6A3): c.6181C> T (p.Arg2061Ter) single nucleotide variant Pathogenic rs797045479 GRCh37 Chromosome 2, 238269793: 238269793
23 MYH7 NM_000257.3(MYH7): c.4886T> C (p.Leu1629Pro) single nucleotide variant Likely pathogenic rs797045730 GRCh37 Chromosome 14, 23885280: 23885280
24 MYH7 NM_000257.3(MYH7): c.4886T> C (p.Leu1629Pro) single nucleotide variant Likely pathogenic rs797045730 GRCh38 Chromosome 14, 23416071: 23416071
25 RYR1 NM_000540.2(RYR1): c.1878_1882del (p.Gly627Terfs) deletion Pathogenic rs797045931 GRCh37 Chromosome 19, 38948223: 38948227
26 RYR1 NM_000540.2(RYR1): c.1878_1882del (p.Gly627Terfs) deletion Pathogenic rs797045931 GRCh38 Chromosome 19, 38457583: 38457587
27 RYR1 NM_000540.2(RYR1): c.2505del (p.Pro836Leufs) deletion Pathogenic rs797045932 GRCh37 Chromosome 19, 38951159: 38951159
28 RYR1 NM_000540.2(RYR1): c.2505del (p.Pro836Leufs) deletion Pathogenic rs797045932 GRCh38 Chromosome 19, 38460519: 38460519
29 RYR1 NM_000540.2(RYR1): c.2654G> A (p.Arg885His) single nucleotide variant Conflicting interpretations of pathogenicity rs370634440 GRCh38 Chromosome 19, 38463499: 38463499
30 RYR1 NM_000540.2(RYR1): c.2654G> A (p.Arg885His) single nucleotide variant Conflicting interpretations of pathogenicity rs370634440 GRCh37 Chromosome 19, 38954139: 38954139
31 RYR1 NM_000540.2(RYR1): c.3235_3240dup (p.Tyr1080_Thr1081insSerTyr) duplication Likely pathogenic rs797045933 GRCh38 Chromosome 19, 38467666: 38467671
32 RYR1 NM_000540.2(RYR1): c.3235_3240dup (p.Tyr1080_Thr1081insSerTyr) duplication Likely pathogenic rs797045933 GRCh37 Chromosome 19, 38958306: 38958311
33 RYR1 NM_000540.2(RYR1): c.3381+1G> A single nucleotide variant Pathogenic rs797045934 GRCh38 Chromosome 19, 38467813: 38467813
34 RYR1 NM_000540.2(RYR1): c.3381+1G> A single nucleotide variant Pathogenic