MCID: MSC190
MIFTS: 51

Muscular Disease

Categories: Muscle diseases, Neuronal diseases

Aliases & Classifications for Muscular Disease

MalaCards integrated aliases for Muscular Disease:

Name: Muscular Disease 12 15
Muscular Diseases 29 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 Degradation of the extracellular matrix. The drugs tannic acid and Telbivudine have been mentioned in the context of this disorder. Affiliated tissues include brain, skeletal muscle and lung, and related phenotypes are behavior/neurological and cardiovascular system

Wikipedia : 76 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 77)
# Related Disease Score Top Affiliating Genes
1 myopathy 33.4 COL6A1 COL6A2 COL6A3 DYSF EMD GAA
2 muscular dystrophy 30.4 ANO5 COL6A1 COL6A2 COL6A3 DAG1 DMD
3 atrophic muscular disease 11.9
4 emery-dreifuss muscular dystrophy 7, autosomal dominant 10.7
5 diaphragm disease 10.7
6 muscle tissue disease 10.6 COL6A1 DAG1 DMD DYSF EMD GAA
7 neuromuscular disease 10.6 DMD EMD GAA RYR1 SCN4A SMN1
8 muscular dystrophy, congenital, lmna-related 10.6 COL6A1 COL6A2 COL6A3 DAG1 DMD EMD
9 rigid spine muscular dystrophy 1 10.6 COL6A2 DMD DYSF GAA RYR1 TTN
10 myopathy, congenital 10.5 DMD DNM2 DYSF GAA RYR1
11 bethlem myopathy 1 10.5 COL6A1 COL6A2 COL6A3 DMD DYSF
12 atrial standstill 1 10.5 ACADVL DMD EMD GAA TTN
13 limb-girdle muscular dystrophy 10.5 ANO5 DMD DYSF TRIM32 TTN
14 myopathy, proximal, and ophthalmoplegia 10.5 COL6A1 COL6A2 EMD RYR1
15 muscle disorders 10.5 COL6A1 COL6A2 COL6A3 RYR1
16 centronuclear myopathy 10.5 DMD DNM2 RYR1 TTN
17 muscular dystrophy, limb-girdle, autosomal recessive 7 10.5 DMD DYSF TRIM32 TTN
18 muscular dystrophy, limb-girdle, autosomal recessive 6 10.5 DMD DYSF TRIM32 TTN
19 autosomal recessive limb-girdle muscular dystrophy 10.5 ANO5 DMD DYSF TRIM32
20 congenital fiber-type disproportion 10.5 DMD DYSF EMD RYR1
21 miyoshi muscular dystrophy 10.5 ANO5 DMD DYSF TTN
22 peripheral nervous system disease 10.5 DNM2 SMN1 SMN2 TTN
23 arrhythmogenic right ventricular cardiomyopathy 10.5 DMD EMD RYR1 TTN
24 collagen vi-related myopathy 10.5 COL6A1 COL6A2 COL6A3
25 isolated hyperckemia 10.5 ANO5 DMD GAA
26 creatine phosphokinase, elevated serum 10.5 ANO5 DMD GAA
27 myopathy, x-linked, with excessive autophagy 10.5 DMD EMD GAA
28 muscular dystrophy, limb-girdle, autosomal recessive 8 10.5 DYSF TRIM32 TTN
29 metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 10.5 ACADVL RYR1 SCN4A
30 muscular dystrophy-dystroglycanopathy , type c, 5 10.5 DYSF TRIM32 TTN
31 cardiomyopathy, dilated, 1a 10.5 DAG1 DMD EMD
32 muscular dystrophy, becker type 10.5 DMD DYSF UTRN
33 ullrich congenital muscular dystrophy 1 10.5 COL6A1 COL6A2 COL6A3
34 malignant hyperthermia 10.5 DMD RYR1 SCN4A
35 muscular dystrophy, limb-girdle, autosomal recessive 2 10.5 DYSF TRIM32 TTN
36 autosomal genetic disease 10.5 DMD RYR1 UTRN
37 myositis 10.5 DMD DYSF TTN
38 localized lipodystrophy 10.5 DMD DYSF
39 cardioneuromyopathy with hyaline masses and nemaline rods 10.5 DMD TTN
40 cytoplasmic body myopathy 10.5 DMD UTRN
41 myopathy, centronuclear, 2 10.5 RYR1 TTN
42 myoglobinuria, recurrent 10.5 ACADVL DMD
43 charcot-marie-tooth disease, dominant intermediate b 10.5 DNM2 RYR1
44 cardiomyopathy, dilated, 1b 10.5 DAG1 DMD
45 spinal muscular atrophy, type iv 10.5 SMN1 SMN2
46 survival motor neuron spinal muscular atrophy 10.4 SMN1 SMN2
47 autosomal recessive limb-girdle muscular dystrophy type 2l 10.4 ANO5 DYSF
48 arthrogryposis multiplex congenita, neurogenic type 10.4 SMN1 SMN2
49 muscular dystrophy, congenital, 1b 10.4 DAG1 DMD
50 autosomal recessive limb-girdle muscular dystrophy type 2c 10.4 DMD DYSF

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 rigidity, muscle cramp, joint symptom, muscle spasticity, spasmodic torticollis, musculoskeletal symptom, leg cramps

MGI Mouse Phenotypes related to Muscular Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.21 ACADVL ANO5 COL6A2 DAG1 DMD DYSF
2 cardiovascular system MP:0005385 10.02 ACADVL DAG1 DMD DNM2 EMD GAA
3 cellular MP:0005384 10 ACADVL ANO5 COL6A3 DAG1 DMD DNM2
4 growth/size/body region MP:0005378 9.97 ACADVL COL6A2 COL6A3 DAG1 DMD DNM2
5 homeostasis/metabolism MP:0005376 9.8 ACADVL ANO5 DAG1 DMD DNM2 DYSF
6 muscle MP:0005369 9.53 ACADVL ANO5 COL6A1 COL6A3 DAG1 DMD

Drugs & Therapeutics for Muscular Disease

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

(show top 50) (show all 786)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 tannic acid Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
2
Telbivudine Approved, Investigational Phase 4 3424-98-4 159269
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 53179-13-8 40632
6
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 83-43-2 6741
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
Naltrexone Approved, Investigational, Vet_approved Phase 4,Phase 2,Not Applicable 16590-41-3 5360515
11
Milnacipran Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 92623-85-3 65833
12
Etoricoxib Approved, Investigational Phase 4,Phase 3,Phase 1 202409-33-4 123619
13
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
14
Ramipril Approved Phase 4 87333-19-5 5362129
15
Amitriptyline Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 50-48-6 2160
16
Cyclobenzaprine Approved Phase 4,Phase 3,Phase 2,Not Applicable 303-53-7 2895
17
Acetylcholine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 51-84-3 187
18
Gabapentin Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 60142-96-3 3446
19
Perphenazine Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 58-39-9 4748
20
gamma-Aminobutyric acid Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 56-12-2 119
21
Triamcinolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 124-94-7 31307
22
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 137-58-6 3676
23
Sodium oxybate Approved Phase 4,Phase 3,Phase 2 502-85-2 5360545
24
Dinoprostone Approved Phase 4,Not Applicable 363-24-6 5280360
25
Prednisone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 53-03-2 5865
26
Bezafibrate Approved, Investigational Phase 4,Phase 3,Phase 2 41859-67-0 39042
27
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 1177-87-3
28
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 50-02-2 5743
29
Polidocanol Approved Phase 4,Phase 2 9002-92-0
30
Simvastatin Approved Phase 4,Phase 3,Phase 2,Not Applicable 79902-63-9 54454
31
Pregabalin Approved, Illicit, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 148553-50-8 5486971
32
Norepinephrine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 51-41-2 439260
33
Dopamine Approved Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1 51-61-6, 62-31-7 681
34
Tramadol Approved, Investigational Phase 4,Phase 3,Phase 2 27203-92-5 33741
35
Acetaminophen Approved Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1 103-90-2 1983
36
Ibuprofen Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 15687-27-1 3672
37
Propranolol Approved, Investigational Phase 4,Phase 2,Phase 1,Not Applicable 525-66-6 4946
38
Propofol Approved, Investigational, Vet_approved Phase 4,Not Applicable 2078-54-8 4943
39
Baclofen Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 1134-47-0 2284
40
Azathioprine Approved Phase 4,Not Applicable 446-86-6 2265
41
Colchicine Approved Phase 4,Phase 3,Not Applicable 64-86-8 6167 2833
42
Betamethasone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 378-44-9 9782
43
Hyaluronic acid Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1,Not Applicable 9004-61-9 53477741
44
Ethanol Approved Phase 4,Phase 3,Phase 1,Not Applicable,Early Phase 1 64-17-5 702
45
Dronabinol Approved, Illicit Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 1972-08-3 16078
46
Doxycycline Approved, Investigational, Vet_approved Phase 4,Not Applicable 564-25-0 54671203
47
Citalopram Approved Phase 4,Phase 3,Not Applicable 59729-33-8 2771
48
Abatacept Approved Phase 4,Phase 3,Phase 2,Early Phase 1 332348-12-6 10237
49
Ropivacaine Approved Phase 4,Not Applicable 84057-95-4 175805 71273
50
Nitroglycerin Approved, Investigational Phase 4,Phase 2,Not Applicable 55-63-0 4510

Interventional clinical trials:

(show top 50) (show all 3066)
# 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 Meditoxin® Treatment in Patients With Post Stroke Upper Limb Spasticity Unknown status NCT02757404 Phase 4
15 Prospective, Cross Over Gabapentin vs Amitriptyline Study on Patients Suffering From Masticatory Muscle Pain Unknown status NCT02339662 Phase 4 Gabapentin;Amitriptyline
16 Upper Extremity Rehabilitation Using Robot and Botulinum Toxin Unknown status NCT02228863 Phase 4
17 Corticosteroid Injection Verses High Energy Extracorporeal Shock Wave Therapy for Lateral Epicondylitis Unknown status NCT02613455 Phase 4 Kenalog (triamcinolone);lidocaine 1% (lidocaine HCl 20mg)
18 The Effectiveness of Early Botulinum Toxin A Injection for Lower Limbs Spasticity in Subacute Stroke Adults Unknown status NCT02505802 Phase 4 BoNT-A injection
19 Effects of Functional Electrical Stimulation on Gait in Children With Cerebral Palsy Unknown status NCT02462018 Phase 4
20 Sodium Oxybate in Patients With Chronic Fatigue Syndrome. Unknown status NCT01584934 Phase 4 Sodium oxybate;Placebo
21 Optimal Dose of Extracorporeal Shock Wave Therapy After Botulinum Toxin Type A Injection for Post-stroke Spasticity Unknown status NCT02358005 Phase 4
22 Evaluation of the Effects of L-Carnitine Injection in Patients Undergoing Hemodialysis Unknown status NCT00173706 Phase 4 L-Carnitine Injection
23 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
24 The Efficacy and Safety of MEDITOXIN® in Children With Cerebral Palsy Unknown status NCT01256021 Phase 4 Botulinum Toxin Type A
25 Antispastic Effect of Transcranial Magnetic Stimulation in Patients With Cerebral and Spinal Spasticity Unknown status NCT01786005 Phase 4
26 The Immune and Clinical Impacts of Vitamin D in Patients With Chronic Musculo-skeletal Pain Unknown status NCT01417923 Phase 4 vitamin D
27 Steroids Pharmacokinetics and the Response to Prednisone Therapy in Giant Cell Arteritis Unknown status NCT01400464 Phase 4 Prednisone therapy and pharmacokinetic
28 Nasal Continuous Positive Airway Pressure (CPAP) in Chronic Fatigue and Sleep-disordered Breathing Unknown status NCT01368718 Phase 4
29 Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases Unknown status NCT01151644 Phase 4
30 Differences in Atorvastatin Metabolite Ratios as a Diagnostic Tool in Detecting Atorvastatin Induced Myotoxicity Completed NCT00199745 Phase 4 atorvastatin
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 Using Clonidine to Improve Leg Weakness in People With Heart Failure Completed NCT00858845 Phase 4 Clonidine Patch
35 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
36 Effects of Vitamin D Supplementation in Obesity Completed NCT01037140 Phase 4 Cholecalciferol;placebo
37 Effect of Gemfibrozil on the Safety and Pharmacokinetics of Red Yeast Rice in Healthy Subjects Completed NCT01385020 Phase 4 Gemfibrozil & red yeast rice (LipoCol)
38 Early Goal-Directed Nutrition in ICU Patients - EAT-ICU Trial Completed NCT01372176 Phase 4
39 Effect of Goserelin (Zoladex®) in Spinal and Bulbar Muscular Atrophy Completed NCT00851461 Phase 4 Goserelin
40 Relation Between Intrabdominal Pressure and Collapsibility Index of Inferior Vena Cava Before and After Fluid Therapy Completed NCT01553422 Phase 4
41 Long Term Effectiveness of Trigger Finger Injections With Triamcinolone vs. Dexamethasone Completed NCT03641508 Phase 4 Triamcinolone;Dexamethasone
42 Shockwave Therapy of Chronic Achilles Tendinopathy Completed NCT00958620 Phase 4
43 "NSAIDs in Acute Achilles Tendinopathy: Effect on Pain Control, Leg Stiffness and Functional Recovery in Athletes" Completed NCT00792376 Phase 4 etoricoxib;diclofenac
44 The Value of Platelet-Rich Plasma in Chronic Midportion Achilles Tendinopathy: a Double-blind Randomized Clinical Trial Completed NCT00761423 Phase 4
45 Achilles Tendinosis Study; Comparison of Radiofrequency to Surgical MicroDebridement Completed NCT00534781 Phase 4
46 The Efficacy of Polidocanol Injections as a Treatment of Chronic Achilles. Tendinopathy Completed NCT00377910 Phase 4 Aethoxysclerol
47 Colloids in Severe Trauma Completed NCT00890383 Phase 4 tetrastarch (Voluven)
48 Assessing the Role of "Statin" Therapy and Perioperative Inflammatory Response in Patients Undergoing Major Orthopedic Surgery Completed NCT00656292 Phase 4 Simvastatin;Placebo
49 Discomfort and Psychosocial Difficulties in Fibromyalgia Completed NCT02078791 Phase 4 Botox infiltration
50 Strengthening Exercises for Fibromyalgia Completed NCT02063750 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 29

Anatomical Context for Muscular Disease

MalaCards organs/tissues related to Muscular Disease:

41
Brain, Skeletal Muscle, Lung, Skin, Liver, Spleen, Retina

Publications for Muscular Disease

Articles related to Muscular Disease:

(show top 50) (show all 74)
# Title Authors Year
1
Electrophysiological and histopathological findings of muscular disease suspected as myotonic dystrophy in a Shiba dog. ( 29311426 )
2018
2
Does muscle biopsy change the treatment of pediatric muscular disease? ( 29845315 )
2018
3
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
4
Ageing with Muscular Disease. ( 28144383 )
2016
5
Statistical insights into major human muscular diseases. ( 24569163 )
2014
6
Prediction of rare single-nucleotide causative mutations for muscular diseases in pooled next-generation sequencing experiments. ( 25029289 )
2014
7
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
8
Aminotransferases and muscular diseases: a disregarded lesson. Case reports and review of the literature. ( 20500440 )
2012
9
An animal model to study human muscular diseases involving mitochondrial oxidative phosphorylation. ( 22706663 )
2012
10
Canine muscle cell culture and consecutive patch-clamp measurements - a new approach to characterize muscular diseases in dogs. ( 23171640 )
2012
11
Wilmington robotic exoskeleton: a novel device to maintain arm improvement in muscular disease. ( 21654447 )
2011
12
Functional imaging in muscular diseases. ( 22347980 )
2011
13
HyperCKemia as a biomarker for muscular diseases. ( 20499036 )
2010
14
One-hundred-seventy-five years of Neapolitan contributions to the fight against the muscular diseases. ( 21574522 )
2010
15
Zebrafish muscular disease models towards drug discovery. ( 23485083 )
2009
16
Using immunoglobulins in muscular disease treatment. ( 18613765 )
2008
17
Stem cells and plasticity of skeletal muscle cell differentiation: potential application to cell therapy for degenerative muscular diseases. ( 17511561 )
2007
18
Bibliography. Current world literature. Neuro-muscular diseases: nerve. ( 17885452 )
2007
19
Bibliography. Current world literature. Neuro-muscular diseases: muscle. ( 17933070 )
2007
20
Cardiac treatment in neuro-muscular diseases. ( 17626520 )
2006
21
Proteolysis of beta-dystroglycan in muscular diseases. ( 15833425 )
2005
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
Analysis of dystrophin in muscular diseases by two-dimensional gel electrophoresis using agarose gels in the first dimension. ( 8711982 )
1996
29
Is camptocormia a primary muscular disease? ( 7631230 )
1995
30
Current concepts review. The diagnosis and orthopaedic treatment of inherited muscular diseases of childhood. ( 7713984 )
1995
31
Swallowing disorders in muscular diseases: functional assessment and indications of cricopharyngeal myotomy. ( 8162870 )
1994
32
Automatic diagnosis of neuro-muscular diseases using neural network. ( 7948644 )
1994
33
The diagnosis and orthopaedic treatment of inherited muscular diseases of childhood. ( 8444925 )
1993
34
Patients with neuro-muscular diseases: socio-psychological aspects. ( 1938027 )
1991
35
Cytochrome c oxidase deficient fibres in the limb muscle and diaphragm of man without muscular disease: an age-related alteration. ( 1965203 )
1990
36
Animal models utilized in research on muscular diseases in Japan. ( 3601989 )
1987
37
Basic and clinical studies on mouth occlusion pressure in healthy subjects and patients with pulmonary and muscular diseases. ( 7182382 )
1982
38
X-ray diagnostic sign for the differentiation of neurogenic and primary muscular diseases. ( 6213474 )
1981
39
Simple electrophoretic technique for creatine kinase MM isozyme in neonatal Duchenne muscular disease screening using dried blood samples. ( 7398089 )
1980
40
Use of X-ray techniques to demonstrate electively increased damage to certain muscles in patients suffering from muscular diseases. ( 6451530 )
1980
41
Mitochondrial abnormalities in some human muscular diseases and in experimental ischemic myopathy. ( 616300 )
1977
42
Choline acetyltransferase activity in human muscular diseases. ( 55474 )
1976
43
The influence of cysteine, reduced glutathione and 2-mercaptoethanol on creatine phosphokinase activity in muscular diseases. ( 963897 )
1976
44
Correction of severe open-bite associated with muscular disease. Report of a case. ( 1054459 )
1975
45
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
46
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
47
Myoglobin in primary muscular disease. I. Duchenne muscular dystrophy. II. Muscular dystrophy of distal type. ( 4590363 )
1973
48
Genetic approaches to the nosology of muscular disease: myotonias and similar diseases. ( 5293617 )
1971
49
Frequency analysis of the EMG in neuro-muscular diseases. ( 4103189 )
1971
50
Structural changes in muscle cells in various neuro-muscular diseases. ( 5573901 )
1971

Variations for Muscular Disease

ClinVar genetic disease variations for Muscular Disease:

6 (show top 50) (show all 114)
# Gene Variation Type Significance SNP ID Assembly Location
1 ANO5 NM_213599.2(ANO5): c.191dupA (p.Asn64Lysfs) duplication Pathogenic rs137854521 GRCh37 Chromosome 11, 22242653: 22242653
2 ANO5 NM_213599.2(ANO5): c.191dupA (p.Asn64Lysfs) duplication 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 SCN4A NM_000334.4(SCN4A): c.2024G> A (p.Arg675Gln) single nucleotide variant Pathogenic rs121908557 GRCh37 Chromosome 17, 62034874: 62034874
6 SCN4A NM_000334.4(SCN4A): c.2024G> A (p.Arg675Gln) single nucleotide variant Pathogenic rs121908557 GRCh38 Chromosome 17, 63957514: 63957514
7 DNM2 NM_001005360.2(DNM2): c.1102G> A (p.Glu368Lys) single nucleotide variant Pathogenic rs121909092 GRCh37 Chromosome 19, 10904505: 10904505
8 DNM2 NM_001005360.2(DNM2): c.1102G> A (p.Glu368Lys) single nucleotide variant Pathogenic rs121909092 GRCh38 Chromosome 19, 10793829: 10793829
9 TRIM32 NM_001099679.1(TRIM32): c.1459G> A (p.Asp487Asn) single nucleotide variant Pathogenic rs111033570 GRCh37 Chromosome 9, 119461480: 119461480
10 TRIM32 NM_001099679.1(TRIM32): c.1459G> A (p.Asp487Asn) single nucleotide variant Pathogenic rs111033570 GRCh38 Chromosome 9, 116699201: 116699201
11 RAPSN NM_005055.4(RAPSN): c.264C> A (p.Asn88Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs104894299 GRCh37 Chromosome 11, 47469631: 47469631
12 RAPSN NM_005055.4(RAPSN): c.264C> A (p.Asn88Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs104894299 GRCh38 Chromosome 11, 47448079: 47448079
13 RAPSN NM_005055.4(RAPSN): c.490C> T (p.Arg164Cys) single nucleotide variant Likely pathogenic rs104894294 GRCh37 Chromosome 11, 47469405: 47469405
14 RAPSN NM_005055.4(RAPSN): c.490C> T (p.Arg164Cys) single nucleotide variant Likely pathogenic rs104894294 GRCh38 Chromosome 11, 47447853: 47447853
15 MT-TP m.15990C> T single nucleotide variant Pathogenic rs199474699 GRCh37 Chromosome MT, 15990: 15990
16 MT-TP m.15990C> T single nucleotide variant Pathogenic rs199474699 GRCh38 Chromosome MT, 15990: 15990
17 MT-TQ m.4369_4370insA duplication Pathogenic rs199476140 GRCh37 Chromosome MT, 4369: 4369
18 MT-TQ m.4369_4370insA duplication Pathogenic rs199476140 GRCh38 Chromosome MT, 4369: 4369
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_000070.2(CAPN3): c.550delA (p.Thr184Argfs) deletion Pathogenic rs80338800