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

Aliases & Classifications for Myopathy

Summaries for Myopathy

NINDS : 53 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 nemaline myopathy and centronuclear myopathy, 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 Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases. The drugs Pirfenidone and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include Placenta, skeletal muscle and heart, and related phenotypes are Decreased viability and Decreased viability

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

Wikipedia : 74 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 1793)
# Related Disease Score Top Affiliating Genes
1 nemaline myopathy 35.2 TPM2 TNNT1 NEB CFL2 ACTA1
2 centronuclear myopathy 35.1 TPM2 SELENON RYR1 NEB MTM1 DYSF
3 myopathy, tubular aggregate, 1 35.1 RYR1 MTM1 DYSF
4 myopathy, congenital 35.1 TPM2 SELENON RYR1 NEB MYH7 MTM1
5 myopathy, proximal, and ophthalmoplegia 35.0 RYR1 MYH2 COL6A2 COL6A1
6 bethlem myopathy 1 34.9 SELENON RYR1 MYH7 DYSF COL6A3 COL6A2
7 reducing body myopathy 34.9 NEB DES CFL2
8 myopathy, spheroid body 34.9 NEB LDB3 DES
9 inclusion body myositis 34.9 VCP MYH2 LDB3 GNE DYSF
10 myopathy, myofibrillar, 1 34.8 SELENON NEB LDB3 DES CRYAB
11 cap myopathy 34.8 TPM2 ACTA1
12 childhood-onset nemaline myopathy 34.8 TPM2 NEB ACTA1
13 collagen vi-related myopathy 34.8 COL6A3 COL6A2 COL6A1
14 inclusion body myopathy with paget disease of bone and frontotemporal dementia 34.7 VCP MYH2 GNE
15 myofibrillar myopathy 34.7 VCP SELENON NEB MYH7 LDB3 GNE
16 myopathy, myofibrillar, 5 34.7 LDB3 GNE CRYAB
17 typical congenital nemaline myopathy 34.7 TPM2 NEB CFL2 ACTA1
18 myopathy, myofibrillar, 3 34.7 LDB3 DYSF CRYAB
19 intermediate congenital nemaline myopathy 34.7 NEB ACTA1
20 myopathy, congenital, bailey-bloch 34.7 SELENON RYR1
21 myopathy, congenital, with fiber-type disproportion 34.7 SELENON RYR1 MYH7 ACTA1
22 myopathy, myofibrillar, 4 34.6 NEB LDB3 GNE CRYAB AMPD1
23 myopathy, centronuclear, 1 34.6 RYR1 MTM1
24 severe congenital nemaline myopathy 34.6 NEB ACTA1
25 myopathy, myofibrillar, 2 34.6 LDB3 CRYAB
26 central core myopathy 34.5 SELENON RYR1 NEB MYH7 MTM1 ACTA1
27 cylindrical spirals myopathy 34.4 CFL2 AMPD1
28 rigid spine muscular dystrophy 1 34.4 SELENON RYR1 MYH7 DYSF COL6A2 COL6A1
29 central core disease of muscle 34.4 SELENON RYR1 NEB DES
30 myositis 34.4 VCP RYR1 NEB GNE DYSF
31 myopathy, myofibrillar, 6 34.4 LDB3 CRYAB
32 congenital myopathy with cores 34.4 RYR1 ACTA1
33 multiminicore disease 34.2 SELENON RYR1
34 miyoshi muscular dystrophy 34.2 MYH7 GNE DYSF DES
35 congenital fiber-type disproportion 34.1 TPM2 TNNT1 SELENON RYR1 NEB MYH7
36 autosomal dominant distal myopathy 34.0 MYH7 DES
37 tibial muscular dystrophy 34.0 NEB MYH7 LDB3 GNE DYSF
38 ullrich congenital muscular dystrophy 1 33.9 SELENON DYSF COL6A3 COL6A2 COL6A1
39 congenital structural myopathy 33.9 TPM2 TNNT1 SELENON RYR1 NEB MYH7
40 scapuloperoneal myopathy 33.9 MYH7 ACTA1
41 myopathy of extraocular muscle 33.5 MYH7 MYH2
42 muscular dystrophy 33.0 VCP SELENON RYR1 NEB MYH7 MYH2
43 malignant hyperthermia 32.9 SELENON RYR1 MYH7 MTM1 DYSF AMPD1
44 muscular disease 32.7 VCP TPM2 TNNT1 SELENON RYR1 NEB
45 muscular dystrophy, congenital, lmna-related 32.5 SELENON RYR1 MYH7 MYH2 DYSF COL6A3
46 respiratory failure 31.9 SELENON RYR1 MYH7 ACTA1
47 neuromuscular disease 31.8 RYR1 MYH7 MTM1 GNE DYSF DES
48 atrial standstill 1 31.8 MYH7 DES CRYAB
49 hypertrophic cardiomyopathy 31.7 TNNT1 MYH7 LDB3 DES CRYAB
50 dilated cardiomyopathy 31.6 TPM2 TNNT1 MYH7 MTM1 LDB3 DES

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:

# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 10.12 GNE
2 Decreased viability GR00221-A-3 10.12 GNE
3 Decreased viability GR00221-A-4 10.12 DYSF GNE
4 Decreased viability GR00301-A 10.12 DYSF
5 Decreased viability GR00381-A-1 10.12 COL6A2 LDB3 VCP
6 Decreased viability GR00381-A-3 10.12 COL6A2
7 Decreased viability GR00402-S-2 10.12 ACTA1 AMPD1 CFL2 COL6A1 COL6A2 COL6A3
8 no effect GR00402-S-1 9.62 ACTA1 AMPD1 CFL2 COL6A1 COL6A2 COL6A3

MGI Mouse Phenotypes related to Myopathy:

# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 ACTA1 CFL2 COL6A2 CRYAB DES DYSF
2 homeostasis/metabolism MP:0005376 9.73 ACTA1 AMPD1 CRYAB DES DYSF GNE
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 301)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Pirfenidone Approved, Investigational Phase 4 53179-13-8 40632
tannic acid Approved Phase 4 1401-55-4
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
Telbivudine Approved, Investigational Phase 4 3424-98-4 159269
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
10 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
Bezafibrate Approved, Investigational Phase 4 41859-67-0 39042
Gemfibrozil Approved Phase 4 25812-30-0 3463
Budesonide Approved Phase 4 51333-22-3 63006 5281004
Succinylcholine Approved Phase 4 306-40-1 5314
Abatacept Approved Phase 4 332348-12-6 10237
Ramipril Approved Phase 4 87333-19-5 5362129
Ezetimibe Approved Phase 4 163222-33-1 150311
Acetaminophen Approved Phase 4 103-90-2 1983
Sodium citrate Approved, Investigational Phase 4 68-04-2
Simvastatin Approved Phase 4 79902-63-9 54454
Atorvastatin Approved Phase 4 134523-00-5 60823
Pravastatin Approved Phase 4 81093-37-0 54687
Methyltestosterone Approved Phase 4 58-18-4 6010
Testosterone Approved, Experimental, Investigational Phase 4 58-22-0, 481-30-1 6013 10204
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0
Testosterone enanthate Approved Phase 4 315-37-7 9416
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 6221 5280795
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
Tenofovir Experimental, Investigational Phase 4 147127-20-6 464205
35 Ergocalciferols Phase 4
36 Vitamin D2 Phase 4
37 Protective Agents Phase 4
38 Platelet Aggregation Inhibitors Phase 4
39 Antiemetics Phase 4
40 Methylprednisolone Acetate Phase 4
41 Neuroprotective Agents Phase 4
42 glucocorticoids Phase 4
43 Clofibric Acid Phase 4 882-09-7
44 Red yeast rice Phase 4
45 Red Yeast Phase 4
46 Neuromuscular Agents Phase 4
47 policosanol Phase 4
48 Neuromuscular Blocking Agents Phase 4
49 Analgesics, Non-Narcotic Phase 4
50 Analgesics Phase 4

Interventional clinical trials:

(show top 50) (show all 420)
# 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 Control Trial of Vitamin D Prophylaxis in the Prevention of Hypertensive Disorders of Pregnancy Unknown status NCT02920593 Phase 4 Vitamin D3
5 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
6 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
7 Association Between Systemic Exposure of Atorvastatin and Metabolites and Atorvastatin-induced Myotoxicity Completed NCT00120055 Phase 4 Atorvastatin (Lipitor)
8 The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM) Completed NCT01527318 Phase 4 Fibrate treatment
9 Investigations on Differences in Atorvastatin Metabolite Ratios as a Diagnostic Tool in Detecting Atorvastatin Induced Myotoxicity Completed NCT00199745 Phase 4 atorvastatin
10 Investigations on Differences in Atorvastatin Metabolites Ratios as a Diagnostic Tool in Detecting Atorvastatin Induced Myotoxicity Completed NCT00414531 Phase 4 Atorvastatin
11 Clonidine and the Skeletal Myopathy of Heart Failure Completed NCT00858845 Phase 4 Clonidine Patch
12 Effects of Vitamin D Supplementation in Vitamin D Deficient Obese Subject. Completed NCT01037140 Phase 4 Cholecalciferol;placebo
13 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)
14 Effect of Gemfibrozil on the Safety and Pharmacokinetics of Red Yeast Rice in Healthy Subjects Completed NCT01385020 Phase 4 Gemfibrozil & red yeast rice (LipoCol)
15 Weaning Process in Elderly Intubated Patients Submitted to Inspiratory Muscle Training Completed NCT00922493 Phase 4
16 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
17 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
18 Characterizing Fade Upon Train-of Four Stimulation During Onset and Offset of Neuromuscular Block Produced by Succinlycholine Completed NCT02425449 Phase 4 Succinylcholine
19 Near Infrared Spectroscopy to Diagnose Statin-Associated Muscle Symptoms Recruiting NCT03653663 Phase 4 Simvastatin 20 mg;Placebo Oral Tablet
20 Electrical Stimulation to Reduce Length of Stay and Duration of Intubation in the Neurosciences-intensive Care Unit (NSICU) Recruiting NCT03547687 Phase 4
21 Ramipril Treatment of Claudication: Oxidative Damage and Muscle Fibrosis Recruiting NCT02842424 Phase 4 Ramipril
22 A Study of STAtins for Reducing Events in the Elderly (STAREE) Recruiting NCT02099123 Phase 4 Atorvastatin;Placebo (for Atorvastatin)
23 Abatacept for the Treatment of Refractory Juvenile Dermatomyositis Recruiting NCT02594735 Phase 4 Abatacept
24 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
25 Examining the Effect of Burosumab on Muscle Function Using MR Spectroscopy Recruiting NCT04146935 Phase 4 Burosumab Injection [Crysvita]
26 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
27 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)
28 Double Blind, Prospective Randomized, Crossover Study of Patients With Muscle Complaints on Statin Therapy Terminated NCT00127335 Phase 4 cellulose placebo vs. atorvastatin
29 Quality of Life and Metabolic Alterations in Patients With Statin-Associated Myopathy Terminated NCT00850460 Phase 4 Statins;Placebo
30 Testosterone Replacement for Older Men With Sarcopenia Terminated NCT00240981 Phase 4 Topical testosterone gel 1% (active formulation);Topical gel (placebo formulation)
31 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
32 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
33 Study of Efficacy and Tolerance of Early Launching of Nocturnal Non Invasive Ventilation in Adults With Myotonic Dystrophy Type 1(DM1) Unknown status NCT01225614 Phase 3
34 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
35 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
36 Treatment of Ptosis to Muscular Dystrophy Oculopharyngeal by Myoblast Autologous Graft Unknown status NCT02878694 Phase 2, Phase 3
37 Evaluation of the Effect of NICOtinic Acid (Niacin) on Elevated Lipoprotein(a) Levels (NICOLa Study) Unknown status NCT00633698 Phase 3 Nicotinic acid (niacin);Placebo
38 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
39 Anakinra in Patients With Refractory Idiopathic Inflammatory Myopathies Completed NCT01165008 Phase 2, Phase 3 Anakinra
40 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
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 Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Completed NCT02090959 Phase 3 Ataluren
43 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
44 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
45 Investigation of Kritech Efficacy on Subjects Having Functional Discomfort Associated to Joints and Muscles Disorders Completed NCT02318875 Phase 3
46 A Phase 3 Efficacy and Safety Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Completed NCT01826487 Phase 3 Ataluren;Placebo
47 Effect of Vitamin D Supplementation on Exercise Adaptations in Patients on Statin Therapy Completed NCT02030041 Phase 3 Vitamin D;Simvastatin;Placebo
48 Deflazacort in Dysferlinopathies (LGMD2B/MM) - a Double Blind, Placebo-controlled Clinical Study Completed NCT00527228 Phase 2, Phase 3 deflazacort;placebo
49 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
50 Effects of Growth Hormone on Corticoid Myopathy in Children With Chronic Disease: Effects on Muscle Mass and Strength Completed NCT00813189 Phase 3

Search NIH Clinical Center for Myopathy

Cell-based therapeutics:

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Myopathy cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Myopathy:
PLX-PAD, placental-derived mesenchymal-like stromal cells for muscle disorders
Embryonic/Adult Cultured Cells Related to Myopathy:
Placenta-derived adherent stromal cell (PLX) PMIDs: 18154467 19478280

Cochrane evidence based reviews: muscular diseases

Genetic Tests for Myopathy

Anatomical Context for Myopathy

MalaCards organs/tissues related to Myopathy:

Skeletal Muscle, Heart, Bone, Lung, Testes, Thyroid, Liver
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Myopathy:
# Tissue Anatomical CompartmentCell Relevance
1 Placenta Chorionic Villus Chorionic Mesenchymal Stromal Cells Potential therapeutic candidate

Publications for Myopathy

Articles related to Myopathy:

(show top 50) (show all 23897)
# Title Authors PMID Year
Role of thrombospondin 1 in macrophage inflammation in dysferlin myopathy. 54 61
20467328 2010
Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency. 54 61
20376488 2010
Calsequestrin and junctin immunoreactivity in hexagonally cross-linked tubular arrays myopathy. 54 61
20211563 2010
Pathogenesis of thyroid-associated ophthalmopathy: does autoimmunity against calsequestrin and collagen XIII play a role? 54 61
20505833 2010
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. 54 61
20346669 2010
Approach to the patient who is intolerant of statin therapy. 54 61
20444930 2010
Myopathy and parkinsonism in phosphoglycerate kinase deficiency. 54 61
20151463 2010
A randomized study of alglucosidase alfa in late-onset Pompe's disease. 54 61
20393176 2010
Divergent molecular effects of desmin mutations on protein assembly in myofibrillar myopathy. 54 61
20448486 2010
[Myosin storage myopathy: a rare subtype of protein aggregate myopathies]. 54 61
20376763 2010
Selenoproteins and protection against oxidative stress: selenoprotein N as a novel player at the crossroads of redox signaling and calcium homeostasis. 54 61
19769461 2010
Homozygotic intronic GAA mutation in three siblings with late-onset Pompe's disease. 54 61
20464284 2010
Physiological significance of selective degradation of p62 by autophagy. 54 61
20153326 2010
The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy. 54 61
20171888 2010
Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1. 54 61
20303757 2010
MRI in lipid-lowering agent-associated myopathy: a retrospective review of 21 cases. 54 61
20308477 2010
Two novel mutations in thymidine kinase-2 cause early onset fatal encephalomyopathy and severe mtDNA depletion. 54 61
20083405 2010
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. 54 61
20302629 2010
[Statins and muscular side-effects]. 54 61
20373698 2010
Pitavastatin: a new HMG-CoA reductase inhibitor. 54 61
20179258 2010
Dysferlin overexpression in skeletal muscle produces a progressive myopathy. 54 61
20373350 2010
Muscle toxicity with statins. 54 61
20014178 2010
Desmin myopathy with severe cardiomyopathy in a Uruguayan family due to a codon deletion in a new location within the desmin 1A rod domain. 54 61
20133133 2010
Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene. 54 61
20080402 2010
Muscle phosphorylase b kinase deficiency revisited. 54 61
20080404 2010
Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations. 54 61
19758981 2010
Bezafibrate induces myotoxicity in human rhabdomyosarcoma cells via peroxisome proliferator-activated receptor alpha signaling. 54 61
19683050 2010
Skeletal muscle cell MHC I expression: implications for statin-induced myopathy. 54 61
19813190 2010
Muscle inactivation of mTOR causes metabolic and dystrophin defects leading to severe myopathy. 54 61
20008564 2009
[McArdle disease revealed by exercise intolerance associated with severe rhabdomyolysis]. 54 61
19878922 2009
Selenoprotein function and muscle disease. 54 61
19285112 2009
Neuroleptic malignant syndrome or a statin drug reaction? A case report. 54 61
19952877 2009
Valosin containing protein associated inclusion body myopathy: abnormal vacuolization, autophagy and cell fusion in myoblasts. 54 61
19828315 2009
Muscle MRI in FHL1-linked reducing body myopathy. 54 61
19616434 2009
The SLCO1B1*5 genetic variant is associated with statin-induced side effects. 54 61
19833260 2009
Impact of OATP transporters on pharmacokinetics. 54 61
19785645 2009
Novel DYSF mutations in Thai patients with distal myopathy. 54 61
19493611 2009
Hereditary inclusion-body myopathy: clues on pathogenesis and possible therapy. 54 61
19618441 2009
High aldolase with normal creatine kinase in serum predicts a myopathy with perimysial pathology. 54 61
19240048 2009
Pattern of skeletal muscle involvement in primary dysferlinopathies: a whole-body 3.0-T magnetic resonance imaging study. 54 61
19154541 2009
Consequences of mutations within the C terminus of the FHL1 gene. 54 61
19687455 2009
Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease. 54 61
19587455 2009
Defective myotilin homodimerization caused by a novel mutation in MYOT exon 9 in the first Japanese limb girdle muscular dystrophy 1A patient. 54 61
19458539 2009
Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin. 54 61
19433360 2009
Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment. 54 61
19557870 2009
Functional analysis of a mutation in the SLCO1B1 gene (c.1628T>G) identified in a Japanese patient with pravastatin-induced myopathy. 54 61
19238167 2009
In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy. 54 61
19050726 2009
Safety and in vivo expression of a GNE-transgene: a novel treatment approach for hereditary inclusion body myopathy-2. 54 61
19838336 2009
The role of immunohistochemistry in idiopathic chronic intestinal pseudoobstruction (CIPO): a case-control study. 54 61
19252433 2009
Visual hallucinations in a patient with adult onset acid maltase deficiency disorder. 54 61
19252955 2009

Variations for Myopathy

Copy number variations for Myopathy from CNVD:

# CNVD ID Chromosome 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
Show member pathways
Show member pathways
12.23 MYH7 MYH2 CFL2 ACTA1
Show member pathways
4 11.17 MYH7 MYH2 CFL2 ACTA1
5 11.07 COL6A3 COL6A2 COL6A1
6 10.9 COL6A3 COL6A2 COL6A1
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 15)
# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 10.06 VCP RYR1 NEB DYSF DES CRYAB
2 protein-containing complex GO:0032991 9.93 VCP RYR1 MYH2 CRYAB COL6A2 COL6A1
3 actin cytoskeleton GO:0015629 9.81 TPM2 NEB CFL2 ACTA1
4 collagen trimer GO:0005581 9.7 COL6A3 COL6A2 COL6A1
5 stress fiber GO:0001725 9.67 MYH7 LDB3 ACTA1
6 myofibril GO:0030016 9.61 NEB MYH7 MYH2
7 I band GO:0031674 9.56 RYR1 MTM1 CRYAB CFL2
8 myosin filament GO:0032982 9.55 MYH7 MYH2
9 sarcomere GO:0030017 9.55 NEB MYH7 MYH2 MTM1 ACTA1
10 muscle myosin complex GO:0005859 9.54 MYH7 MYH2
11 contractile fiber GO:0043292 9.54 NEB DES CRYAB
12 cardiac myofibril GO:0097512 9.48 DES CRYAB
13 sarcolemma GO:0042383 9.43 RYR1 DYSF DES COL6A3 COL6A2 COL6A1
14 collagen type VI trimer GO:0005589 9.4 COL6A3 COL6A1
15 Z disc GO:0030018 9.17 RYR1 NEB MYH7 LDB3 DES CRYAB

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.61 NEB CRYAB COL6A3
2 sarcomere organization GO:0045214 9.5 TNNT1 LDB3 CFL2
3 muscle filament sliding GO:0030049 9.5 TPM2 TNNT1 NEB MYH7 MYH2 DES
4 muscle cell cellular homeostasis GO:0046716 9.49 MTM1 CFL2
5 muscle fiber development GO:0048747 9.48 NEB DYSF
6 intermediate filament organization GO:0045109 9.46 MTM1 DES
7 skeletal muscle fiber development GO:0048741 9.43 SELENON RYR1 ACTA1
8 cellular response to caffeine GO:0071313 9.4 SELENON RYR1
9 transition between fast and slow fiber GO:0014883 9.37 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

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.19 VCP TNNT1 SELENON RYR1 NEB MYH7
2 actin binding GO:0003779 9.67 TPM2 MYH7 MYH2 LDB3
3 cytoskeletal protein binding GO:0008092 9.33 LDB3 DES CRYAB
4 microfilament motor activity GO:0000146 9.32 MYH7 MYH2
5 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.13 COL6A3 COL6A2 COL6A1
6 actin filament binding GO:0051015 9.02 TPM2 NEB MYH7 MYH2 CFL2

Sources for Myopathy

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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