MCID: MYP004
MIFTS: 63

Myopathy

Categories: Bone diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myopathy

Summaries for Myopathy

NINDS : 54 The myopathies are neuromuscular disorders in which the primary symptom is muscle weakness due to dysfunction of muscle fiber. Other symptoms of myopathy can include include muscle cramps, stiffness, and spasm. Myopathies can be inherited (such as the muscular dystrophies) or acquired (such as common muscle cramps). Myopathies are grouped as follows: congenital myopathies: characterized by developmental delays in motor skills; skeletal and facial abnormalities are occasionally evident at birth muscular dystrophies: characterized by progressive weakness in voluntary muscles; sometimes evident at birth mitochondrial myopathies: caused by genetic abnormalities in mitochondria, cellular structures that control energy; include Kearns-Sayre syndrome, MELAS and MERRF glycogen storage diseases of muscle: caused by mutations in genes controlling enzymes that metabolize glycogen and glucose (blood sugar); include Pompe's, Andersen's and Cori's diseases myoglobinurias: caused by disorders in the metabolism of a fuel (myoglobin) necessary for muscle work; include McArdle, Tarui, and DiMauro diseases dermatomyositis: an inflammatory myopathy of skin and muscle myositis ossificans: characterized by bone growing in muscle tissue familial periodic paralysis: characterized by episodes of weakness in the arms and legs polymyositis, inclusion body myositis, and related myopathies: inflammatory myopathies of skeletal muscle neuromyotonia: characterized by alternating episodes of twitching and stiffness; and stiff-man syndrome:  characterized by episodes of rigidity and reflex spasms common muscle cramps and stiffness, and tetany:  characterized by prolonged spasms of the arms and legs

MalaCards based summary : Myopathy, also known as muscular diseases, is related to intermediate congenital nemaline myopathy and myopathy, distal, 1, and has symptoms including muscle weakness, myoclonus and myalgia. An important gene associated with Myopathy is NEB (Nebulin), and among its related pathways/superpathways are Integrin Pathway and Cardiac conduction. The drugs Pirfenidone and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, heart and testes, and related phenotypes are no effect and behavior/neurological

Disease Ontology : 12 A muscular disease in which the muscle fibers do not function resulting in muscular weakness.

Wikipedia : 75 Myopathy is a disease of the muscle in which the muscle fibers do not function properly. This results in... more...

Related Diseases for Myopathy

Diseases in the Myopathy family:

Myopathy Due to Malate-Aspartate Shuttle Defect Myopathy, Congenital
Gne-Related Myopathy Benign Autosomal Dominant Myopathy

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

(show top 50) (show all 1790)
# Related Disease Score Top Affiliating Genes
1 intermediate congenital nemaline myopathy 34.8 NEB ACTA1
2 myopathy, distal, 1 34.8 MYH7 MYH2 CFL2
3 myopathy, proximal, and ophthalmoplegia 34.8 RYR1 MYH2 COL6A2 COL6A1
4 collagen vi-related myopathy 34.7 COL6A3 COL6A2 COL6A1
5 severe congenital nemaline myopathy 34.7 NEB ACTA1
6 cap myopathy 34.7 TPM2 ACTA1
7 childhood-onset nemaline myopathy 34.7 TPM2 NEB ACTA1
8 nemaline myopathy 34.7 TPM2 TNNT1 NEB CFL2 ACTA1
9 inclusion body myositis 34.7 VCP MYH2 GNE
10 reducing body myopathy 34.6 NEB DES
11 myopathy, myofibrillar, 2 34.5 MYH7 LDB3 CRYAB ACTA1
12 myofibrillar myopathy 34.4 NEB LDB3 DES CRYAB ACTA1
13 bethlem myopathy 1 34.4 SELENON DYSF COL6A3 COL6A2 COL6A1
14 typical congenital nemaline myopathy 34.4 TPM2 NEB CFL2 ACTA1
15 inclusion body myopathy with paget disease of bone and frontotemporal dementia 34.3 VCP GNE
16 myopathy, congenital, with fiber-type disproportion 34.3 SELENON RYR1 MYH7 ACTA1
17 myopathy, myofibrillar, 1 34.3 SELENON LDB3 DES CRYAB
18 myopathy, spheroid body 34.3 VCP MYH7 LDB3 DES CRYAB
19 myopathy, myofibrillar, 4 34.2 LDB3 AMPD1
20 central core myopathy 34.1 SELENON RYR1 MYH7 MTM1
21 myopathy, congenital 34.1 TNNT1 SELENON RYR1 NEB MYH7 MTM1
22 multiminicore disease 34.1 SELENON RYR1
23 central core disease of muscle 34.0 SELENON RYR1 NEB DES
24 miyoshi muscular dystrophy 34.0 MYH7 MYH2 GNE DYSF
25 ullrich congenital muscular dystrophy 1 33.9 COL6A3 COL6A2 COL6A1
26 rigid spine muscular dystrophy 1 33.8 SELENON RYR1 MYH7 DYSF COL6A2 ACTA1
27 congenital fiber-type disproportion 33.3 TPM2 SELENON RYR1 MYH7 DYSF CFL2
28 congenital structural myopathy 32.9 TPM2 TNNT1 SELENON RYR1 NEB CFL2
29 muscular dystrophy, congenital, lmna-related 32.0 SELENON MYH2 COL6A3 COL6A2 COL6A1
30 muscular dystrophy 31.8 VCP SELENON RYR1 NEB GNE DYSF
31 hypertrophic cardiomyopathy 31.5 TNNT1 MYH7 LDB3 DES
32 foot drop 31.4 NEB ACTA1
33 neuromuscular disease 31.4 RYR1 MTM1 GNE DES AMPD1
34 dilated cardiomyopathy 31.2 TNNT1 MYH7 LDB3 DES CRYAB
35 muscular disease 30.9 VCP TPM2 SELENON RYR1 NEB MYH7
36 restrictive cardiomyopathy 30.8 TNNT1 MYH7 DES CRYAB ACTA1
37 arrhythmogenic right ventricular cardiomyopathy 30.7 RYR1 MYH7 LDB3 DES
38 left ventricular noncompaction 30.5 MYH7 LDB3 DES
39 arthrogryposis, distal, type 1a 30.2 TPM2 RYR1
40 muscle tissue disease 30.0 RYR1 NEB MTM1 GNE DYSF COL6A1
41 centronuclear myopathy 12.7
42 nemaline myopathy 3 12.7
43 myopathy, centronuclear, x-linked 12.7
44 nemaline myopathy 5 12.7
45 myopathy, tubular aggregate, 1 12.7
46 myopathy, centronuclear, 1 12.6
47 nonaka myopathy 12.6
48 myopathy, congenital, bailey-bloch 12.6
49 hyaline body myopathy 12.6
50 myopathy, myofibrillar, 9, with early respiratory failure 12.6

Comorbidity relations with Myopathy via Phenotypic Disease Network (PDN):


Acute Cystitis Bronchitis
Deficiency Anemia Heart Disease
Hypertension, Essential Hypothyroidism
Respiratory Failure

Graphical network of the top 20 diseases related to Myopathy:



Diseases related to Myopathy

Symptoms & Phenotypes for Myopathy

UMLS symptoms related to Myopathy:


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

GenomeRNAi Phenotypes related to Myopathy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 ACTA1 AMPD1 CFL2 COL6A1 COL6A2 COL6A3

MGI Mouse Phenotypes related to Myopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 ACTA1 CFL2 COL6A2 CRYAB DES DYSF
2 growth/size/body region MP:0005378 9.7 ACTA1 CFL2 COL6A2 COL6A3 GNE LDB3
3 muscle MP:0005369 9.55 ACTA1 AMPD1 CFL2 COL6A1 COL6A3 CRYAB

Drugs & Therapeutics for Myopathy

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

(show top 50) (show all 323)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pirfenidone Approved, Investigational Phase 4 53179-13-8 40632
2
tannic acid Approved Phase 4 1401-55-4
3
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
4
Telbivudine Approved, Investigational Phase 4 3424-98-4 159269
5
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
6
Bezafibrate Approved, Investigational Phase 4 41859-67-0 39042
7
Gemfibrozil Approved Phase 4 25812-30-0 3463
8
Budesonide Approved Phase 4 51333-22-3 63006 5281004
9
Succinylcholine Approved Phase 4 306-40-1 5314
10
Abatacept Approved Phase 4 332348-12-6 10237
11
Ramipril Approved Phase 4 87333-19-5 5362129
12
Ezetimibe Approved Phase 4 163222-33-1 150311
13
Acetaminophen Approved Phase 4 103-90-2 1983
14
Sodium citrate Approved, Investigational Phase 4 68-04-2
15
Simvastatin Approved Phase 4 79902-63-9 54454
16
Atorvastatin Approved Phase 4 134523-00-5 60823
17
Pravastatin Approved Phase 4 81093-37-0 54687
18
Methyltestosterone Approved Phase 4 58-18-4 6010
19
Testosterone enanthate Approved Phase 4 315-37-7 9416
20
Testosterone Approved, Experimental, Investigational Phase 4 481-30-1, 58-22-0 6013 10204
21
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0
22
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
23
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
24
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
25
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
26
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
27
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
28
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
29
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
30
Tenofovir Experimental, Investigational Phase 4 147127-20-6 464205
31 Platelet Aggregation Inhibitors Phase 4
32 Clofibric Acid Phase 4 882-09-7
33 Neuromuscular Agents Phase 4
34 Red yeast rice Phase 4
35 Red Yeast Phase 4
36 policosanol Phase 4
37 Neuromuscular Depolarizing Agents Phase 4
38 Neuromuscular Blocking Agents Phase 4
39 Analgesics, Non-Narcotic Phase 4
40 Analgesics Phase 4
41 Vitamin D2 Phase 4
42 Ergocalciferols Phase 4
43 Calciferol Phase 4
44 Calcium, Dietary Phase 4
45 Bone Density Conservation Agents Phase 4
46
protease inhibitors Phase 4
47 HIV Protease Inhibitors Phase 4
48 Angiotensin-Converting Enzyme Inhibitors Phase 4
49 Amlodipine, atorvastatin drug combination Phase 4
50 Tryptophan Phase 4

Interventional clinical trials:

(show top 50) (show all 418)
# Name Status NCT ID Phase Drugs
1 Identification of Carnitine-responsive Cardiomyopathy and Myopathy in Adult Patients With Dilated and/or Hypertrophic Cardiomyopathy and Limb Girdle Weakness. Unknown status NCT01904396 Phase 4 Carnitine
2 Randomized Controlled Trial of Pirfenidone in Patients With Progressive Interstitial Lung Disease Associated With Clinically Amyopathic Dermatomyositis Unknown status NCT02821689 Phase 4 Pirfenidone
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 A Randomized, Prospective, Multicenter, Open-label Study to Evaluate the Efficacy of Telbivudine With or Without add-on Tenofovir According to Roadmap Strategy Compare With Entecavir in HBeAg-positive Chronic Hepatitis B Patients Unknown status NCT01588912 Phase 4 Telbivudine;Tenofovir;Entecavir
5 Effects of High Dose Simvastatin vs. Atorvastatin on Baseline Lipoprotein Profiles, Apo-A-1 and C Reactive Protein Unknown status NCT00736463 Phase 4 Simvastatin;Atorvastatin 80 mg
6 Association Between Systemic Exposure of Atorvastatin and Metabolites and Atorvastatin-induced Myotoxicity Completed NCT00120055 Phase 4 Atorvastatin (Lipitor)
7 The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM) Completed NCT01527318 Phase 4 Fibrate treatment
8 Investigations on Differences in Atorvastatin Metabolite Ratios as a Diagnostic Tool in Detecting Atorvastatin Induced Myotoxicity Completed NCT00199745 Phase 4 atorvastatin
9 Investigations on Differences in Atorvastatin Metabolites Ratios as a Diagnostic Tool in Detecting Atorvastatin Induced Myotoxicity Completed NCT00414531 Phase 4 Atorvastatin
10 Clonidine and the Skeletal Myopathy of Heart Failure Completed NCT00858845 Phase 4 Clonidine Patch
11 Effects of Vitamin D Supplementation in Vitamin D Deficient Obese Subject. Completed NCT01037140 Phase 4 Cholecalciferol;placebo
12 Effect of Gemfibrozil on the Safety and Pharmacokinetics of Red Yeast Rice in Healthy Subjects Completed NCT01385020 Phase 4 Gemfibrozil & red yeast rice (LipoCol)
13 Weaning Process in Elderly Intubated Patients Submitted to Inspiratory Muscle Training Completed NCT00922493 Phase 4
14 Rho-kinase in Patients With Atherosclerosis: Effects of Statins A Randomized Clinical Trial Comparing Ezetimibe/Simvastatin and Simvastatin Completed NCT00560170 Phase 4 Simvastatin (Zocor);10mg/10mg of Ezetimibe/Simvastatin (Vytorin)
15 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
16 Long Term Efficacy and Tolerability of a Nutraceutical Combination (Red Yeast Rice, Policosanols and Berberine) in Low-moderate Risk Hypercholesterolemic Patients: a Double-blind, Placebo Controlled Study Completed NCT02078167 Phase 4
17 Characterizing Fade Upon Train-of Four Stimulation During Onset and Offset of Neuromuscular Block Produced by Succinlycholine Completed NCT02425449 Phase 4 Succinylcholine
18 Near Infrared Spectroscopy to Diagnose Statin-Associated Muscle Symptoms Recruiting NCT03653663 Phase 4 Simvastatin 20 mg;Placebo Oral Tablet
19 Electrical Stimulation to Reduce Length of Stay and Duration of Intubation in the Neurosciences-intensive Care Unit (NSICU) Recruiting NCT03547687 Phase 4
20 Ramipril Treatment of Claudication: Oxidative Damage and Muscle Fibrosis Recruiting NCT02842424 Phase 4 Ramipril
21 A Study of STAtins for Reducing Events in the Elderly (STAREE) Recruiting NCT02099123 Phase 4 Atorvastatin;Placebo (for Atorvastatin)
22 Abatacept for the Treatment of Refractory Juvenile Dermatomyositis Recruiting NCT02594735 Phase 4 Abatacept
23 Lipid-lowering Regimes Improve Oxidative Stress, Tryptophan Degradation in Hypercholesterolemia Chronic Kidney Disease Patients Recruiting NCT03543774 Phase 4 Simvastatin 40mg;Ezetimibe/simvastatin 10/20 mg/day;Ezetimibe/simvastatin 10/40 mg/day
24 A Randomized Control Trial of Vitamin D Prophylaxis in the Prevention of Hypertensive Disorders of Pregnancy Recruiting NCT02920593 Phase 4 Vitamin D3
25 Pharmacokinetics and Safety of Treatment With Paracetamol in Children and Adults With Spinal Muscular Atrophy and Cerebral Palsy Recruiting NCT03648658 Phase 4 Paracetamol 120Mg/5mL Oral Suspension
26 A Comparative Study of Strategies for Management of Duchenne Myopathy in Assiut University Children Hospital Not yet recruiting NCT03633565 Phase 4 Sildenafil (Phosphodiesterase inhibitors);Prednisolone (Steroids)
27 Double Blind, Prospective Randomized, Crossover Study of Patients With Muscle Complaints on Statin Therapy Terminated NCT00127335 Phase 4 cellulose placebo vs. atorvastatin
28 Quality of Life and Metabolic Alterations in Patients With Statin-Associated Myopathy Terminated NCT00850460 Phase 4 Statins;Placebo
29 Testosterone Replacement for Older Men With Sarcopenia Terminated NCT00240981 Phase 4 Topical testosterone gel 1% (active formulation);Topical gel (placebo formulation)
30 Molecular, Biochemical and Clinical Differences Between Stavudine and Tenofovir, Each Combined With Lamivudine and Efavirenz in South African HIV-infected Patients Terminated NCT01601899 Phase 4 Stavudine;Stavudine;Tenofovir
31 Pharmacological Treatment of a Rare Genetic Disease: Pilot Trial Phase II-III With N-acetylcysteine in Myopathy Associated SEPN1-RM (Selenoprotein N-related Myopathy) Unknown status NCT02505087 Phase 2, Phase 3 N-Acetylcysteine followed by Placebo;Placebo followed by N-Acetylcysteine
32 Randomized Placebo Controlled Trial of Valproate and Levocarnitine in Children With Spinal Muscular Atrophy Aged 2-15 Years Unknown status NCT01671384 Phase 3 Valproate, Levocarnitine;Placebo
33 Clinical Trial, Randomized, Controlled, Parallel, to Evaluate the Effectiveness of Acupuncture as a Treatment in Patients Diagnosed With Chronic Fatigue Syndrome. Unknown status NCT01907711 Phase 2, Phase 3
34 Evaluation of the Effect of NICOtinic Acid (Niacin) on Elevated Lipoprotein(a) Levels (NICOLa Study) Unknown status NCT00633698 Phase 3 Nicotinic acid (niacin);Placebo
35 Treatment of Ptosis to Muscular Dystrophy Oculopharyngeal by Myoblast Autologous Graft Unknown status NCT02878694 Phase 2, Phase 3
36 A Phase 3 Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Sialic Acid Extended-Release Tablets in Patients With GNE Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM) Completed NCT02377921 Phase 3 aceneuramic acid extended-release (Ace-ER);Placebo
37 Anakinra in Patients With Refractory Idiopathic Inflammatory Myopathies Completed NCT01165008 Phase 2, Phase 3 Anakinra
38 Étude de l'Effet de la Rapamycine Sur la Force Musculaire et la réponse Immunitaire au Cours de la Myosite à Inclusions: étude RAPAMI" Completed NCT02481453 Phase 2, Phase 3 Rapamycin;Placebo
39 A Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Completed NCT02090959 Phase 3 Ataluren
40 A Phase 3, Double-Blind, Randomized, Multicenter, Placebo-Controlled Study to Evaluate the Efficacy and Safety of TNX-102 SL Tablets Taken Daily at Bedtime in Patients With Fibromyalgia Completed NCT02436096 Phase 3 TNX-102 SL Tablet, 2.8mg;Placebo SL Tablet
41 An Open Trial With TNF Blockade With Infliximab (Remicade®), in Patients With Chronic Inflammatory Myopathies Completed NCT00443222 Phase 2, Phase 3 Infliximab
42 A Prospective, Randomised, Assessor-blind, Multicenter Study of Efficacy and Safety of Combined Treatment of Methotrexate + Glucocorticoids Versus Glucocorticoids Alone in Patients With Polymyositis and Dermatomyositis. Completed NCT00651040 Phase 3 Prednisone;Methotrexate
43 A Phase 3 Efficacy and Safety Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Completed NCT01826487 Phase 3 Ataluren;Placebo
44 Investigation of Kritech Efficacy on Subjects Having Functional Discomfort Associated to Joints and Muscles Disorders Completed NCT02318875 Phase 3
45 Effect of Vitamin D Supplementation on Exercise Adaptations in Patients on Statin Therapy Completed NCT02030041 Phase 3 Vitamin D;Simvastatin;Placebo
46 Effect of 80-mg Atorvastatin on Myocardial Edema Following Coronary Artery Bypass Surgery in Relation With Follistatin-Like Protein-1 Completed NCT02901379 Phase 3 Atorvastatin 80mg;Atorvastatin 10mg
47 Effects of Growth Hormone on Corticoid Myopathy in Children With Chronic Disease: Effects on Muscle Mass and Strength Completed NCT00813189 Phase 3
48 Deflazacort in Dysferlinopathies (LGMD2B/MM) - a Double Blind, Placebo-controlled Clinical Study Completed NCT00527228 Phase 2, Phase 3 deflazacort;placebo
49 Non-steroidal Anti-inflammatory Affect on Kidneys in Endurance Distances Completed NCT02272725 Phase 3 Ibuprofen;Placebo
50 Effects of Fluticasone/Salmeterol (Advair®) in Outpatients With Chronic Obstructive Pulmonary Disease (COPD) Acute Exacerbation Completed NCT00531791 Phase 3 prednisone group;Advair group

Search NIH Clinical Center for Myopathy

Cochrane evidence based reviews: muscular diseases

Genetic Tests for Myopathy

Anatomical Context for Myopathy

MalaCards organs/tissues related to Myopathy:

41
Skeletal Muscle, Heart, Testes, Lung, Bone, Thyroid, Brain

Publications for Myopathy

Articles related to Myopathy:

(show top 50) (show all 23408)
# Title Authors PMID Year
1
Role of thrombospondin 1 in macrophage inflammation in dysferlin myopathy. 9 38
20467328 2010
2
Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency. 9 38
20376488 2010
3
Approach to the patient who is intolerant of statin therapy. 9 38
20444930 2010
4
Calsequestrin and junctin immunoreactivity in hexagonally cross-linked tubular arrays myopathy. 9 38
20211563 2010
5
Novel missense mutation p.A310P in the GNE gene in autosomal-recessive hereditary inclusion-body myopathy/distal myopathy with rimmed vacuoles in an Italian family. 9 38
20346669 2010
6
Pathogenesis of thyroid-associated ophthalmopathy: does autoimmunity against calsequestrin and collagen XIII play a role? 9 38
20505833 2010
7
Myopathy and parkinsonism in phosphoglycerate kinase deficiency. 9 38
20151463 2010
8
Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1. 9 38
20303757 2010
9
A randomized study of alglucosidase alfa in late-onset Pompe's disease. 9 38
20393176 2010
10
Divergent molecular effects of desmin mutations on protein assembly in myofibrillar myopathy. 9 38
20448486 2010
11
[Myosin storage myopathy: a rare subtype of protein aggregate myopathies]. 9 38
20376763 2010
12
The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy. 9 38
20171888 2010
13
Selenoproteins and protection against oxidative stress: selenoprotein N as a novel player at the crossroads of redox signaling and calcium homeostasis. 9 38
19769461 2010
14
Homozygotic intronic GAA mutation in three siblings with late-onset Pompe's disease. 9 38
20464284 2010
15
Physiological significance of selective degradation of p62 by autophagy. 9 38
20153326 2010
16
MRI in lipid-lowering agent-associated myopathy: a retrospective review of 21 cases. 9 38
20308477 2010
17
Two novel mutations in thymidine kinase-2 cause early onset fatal encephalomyopathy and severe mtDNA depletion. 9 38
20083405 2010
18
Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies. 9 38
20302629 2010
19
[Statins and muscular side-effects]. 9 38
20373698 2010
20
Pitavastatin: a new HMG-CoA reductase inhibitor. 9 38
20179258 2010
21
Dysferlin overexpression in skeletal muscle produces a progressive myopathy. 9 38
20373350 2010
22
Desmin myopathy with severe cardiomyopathy in a Uruguayan family due to a codon deletion in a new location within the desmin 1A rod domain. 9 38
20133133 2010
23
Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene. 9 38
20080402 2010
24
Muscle toxicity with statins. 9 38
20014178 2010
25
Muscle phosphorylase b kinase deficiency revisited. 9 38
20080404 2010
26
Skeletal muscle cell MHC I expression: implications for statin-induced myopathy. 9 38
19813190 2010
27
Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations. 9 38
19758981 2010
28
Bezafibrate induces myotoxicity in human rhabdomyosarcoma cells via peroxisome proliferator-activated receptor alpha signaling. 9 38
19683050 2010
29
Muscle inactivation of mTOR causes metabolic and dystrophin defects leading to severe myopathy. 9 38
20008564 2009
30
[McArdle disease revealed by exercise intolerance associated with severe rhabdomyolysis]. 9 38
19878922 2009
31
Valosin containing protein associated inclusion body myopathy: abnormal vacuolization, autophagy and cell fusion in myoblasts. 9 38
19828315 2009
32
Neuroleptic malignant syndrome or a statin drug reaction? A case report. 9 38
19952877 2009
33
Selenoprotein function and muscle disease. 9 38
19285112 2009
34
The SLCO1B1*5 genetic variant is associated with statin-induced side effects. 9 38
19833260 2009
35
Impact of OATP transporters on pharmacokinetics. 9 38
19785645 2009
36
Muscle MRI in FHL1-linked reducing body myopathy. 9 38
19616434 2009
37
Novel DYSF mutations in Thai patients with distal myopathy. 9 38
19493611 2009
38
Hereditary inclusion-body myopathy: clues on pathogenesis and possible therapy. 9 38
19618441 2009
39
High aldolase with normal creatine kinase in serum predicts a myopathy with perimysial pathology. 9 38
19240048 2009
40
Pattern of skeletal muscle involvement in primary dysferlinopathies: a whole-body 3.0-T magnetic resonance imaging study. 9 38
19154541 2009
41
Consequences of mutations within the C terminus of the FHL1 gene. 9 38
19687455 2009
42
Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease. 9 38
19587455 2009
43
Defective myotilin homodimerization caused by a novel mutation in MYOT exon 9 in the first Japanese limb girdle muscular dystrophy 1A patient. 9 38
19458539 2009
44
Functional analysis of a mutation in the SLCO1B1 gene (c.1628T>G) identified in a Japanese patient with pravastatin-induced myopathy. 9 38
19238167 2009
45
Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin. 9 38
19433360 2009
46
Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment. 9 38
19557870 2009
47
In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy. 9 38
19050726 2009
48
Safety and in vivo expression of a GNE-transgene: a novel treatment approach for hereditary inclusion body myopathy-2. 9 38
19838336 2009
49
Clinical outcome in 19 French and Spanish patients with valosin-containing protein myopathy associated with Paget's disease of bone and frontotemporal dementia. 9 38
19364651 2009
50
Visual hallucinations in a patient with adult onset acid maltase deficiency disorder. 9 38
19252955 2009

Variations for Myopathy

Copy number variations for Myopathy from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 244935 9 1 49000000 Copy number GNE Myopathy

Expression for Myopathy

Search GEO for disease gene expression data for Myopathy.

Pathways for Myopathy

Pathways related to Myopathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.11 MYH7 MYH2 COL6A3 COL6A2 COL6A1 CFL2
2
Show member pathways
12.36 TPM2 TNNT1 RYR1 NEB DYSF DES
3
Show member pathways
11.6 MYH7 MYH2 COL6A3 COL6A2 COL6A1 CFL2
4 11.21 MYH7 MYH2 CFL2 ACTA1
5 11.13 COL6A3 COL6A2 COL6A1
6 11 COL6A3 COL6A2 COL6A1
7 10.88 TPM2 TNNT1 NEB DES ACTA1
8 10.71 DES COL6A3 COL6A2 COL6A1 CFL2

GO Terms for Myopathy

Cellular components related to Myopathy according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 9.93 VCP RYR1 MYH2 COL6A2 COL6A1
2 actin cytoskeleton GO:0015629 9.78 TPM2 NEB CFL2 ACTA1
3 collagen trimer GO:0005581 9.67 COL6A3 COL6A2 COL6A1
4 sarcomere GO:0030017 9.62 NEB MYH7 MYH2 ACTA1
5 myofibril GO:0030016 9.61 NEB MYH7 MYH2
6 contractile fiber GO:0043292 9.54 NEB DES CRYAB
7 myosin filament GO:0032982 9.52 MYH7 MYH2
8 muscle myosin complex GO:0005859 9.51 MYH7 MYH2
9 cardiac myofibril GO:0097512 9.46 DES CRYAB
10 I band GO:0031674 9.46 RYR1 MTM1 CRYAB CFL2
11 sarcolemma GO:0042383 9.43 RYR1 DYSF DES COL6A3 COL6A2 COL6A1
12 collagen type VI trimer GO:0005589 9.4 COL6A3 COL6A1
13 Z disc GO:0030018 9.17 RYR1 NEB MYH7 LDB3 DES CRYAB
14 extracellular exosome GO:0070062 10 VCP RYR1 NEB DYSF DES CRYAB

Biological processes related to Myopathy according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.63 NEB CRYAB COL6A3
2 skeletal muscle contraction GO:0003009 9.52 TNNT1 MYH7
3 sarcomere organization GO:0045214 9.5 TNNT1 LDB3 CFL2
4 muscle filament sliding GO:0030049 9.5 TPM2 TNNT1 NEB MYH7 MYH2 DES
5 muscle cell cellular homeostasis GO:0046716 9.49 MTM1 CFL2
6 intermediate filament organization GO:0045109 9.48 MTM1 DES
7 protein heterotrimerization GO:0070208 9.43 COL6A2 COL6A1
8 skeletal muscle fiber development GO:0048741 9.43 SELENON RYR1 ACTA1
9 transition between fast and slow fiber GO:0014883 9.4 TNNT1 MYH7
10 growth plate cartilage chondrocyte morphogenesis GO:0003429 9.33 COL6A3 COL6A2 COL6A1
11 muscle contraction GO:0006936 9.28 TPM2 TNNT1 RYR1 MYH7 MYH2 DYSF
12 skeletal muscle tissue regeneration GO:0043403 9.21 DYSF
13 cellular response to caffeine GO:0071313 9.07 RYR1

Molecular functions related to Myopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeletal protein binding GO:0008092 9.33 LDB3 DES CRYAB
2 microfilament motor activity GO:0000146 9.26 MYH7 MYH2
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.13 COL6A3 COL6A2 COL6A1
4 actin filament binding GO:0051015 9.02 TPM2 NEB MYH7 MYH2 CFL2
5 protein binding GO:0005515 10.22 VCP TNNT1 SELENON RYR1 NEB MYH7

Sources for Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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