MCID: MYP004
MIFTS: 70

Myopathy

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 myopathy, congenital and bethlem myopathy 1, and has symptoms including muscle weakness, myoclonus and myalgia. An important gene associated with Myopathy is MTM1 (Myotubularin 1), and among its related pathways/superpathways are Cardiac conduction and Striated Muscle Contraction. 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 behavior/neurological and growth/size/body region

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

Wikipedia : 74 In medicine, myopathy is a disease of the muscle in which the muscle fibers do not function properly.... more...

Related Diseases for Myopathy

Diseases in the Myopathy family:

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

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

(show top 50) (show all 1804)
# Related Disease Score Top Affiliating Genes
1 myopathy, congenital 36.2 TTN RYR1 NEB MTM1 GAA DNM2
2 bethlem myopathy 1 36.1 RYR1 NEB EMD DMD COL6A3 COL6A1
3 centronuclear myopathy 36.1 TTN RYR1 NEB MTM1 DNM2 DMD
4 myopathy, centronuclear, x-linked 35.8 TTN RYR1 MTM1 DNM2
5 myofibrillar myopathy 35.7 TTN NEB DNM2 DMD CAPN3
6 myopathy, myofibrillar, 1 35.6 TTN NEB DMD CAPN3
7 congenital fiber-type disproportion 35.5 TTN RYR1 NEB MTM1 EMD DNM2
8 myopathy, myofibrillar, 9, with early respiratory failure 35.4 TTN NEB CAPN3
9 myopathy, centronuclear, 2 35.4 TTN RYR1 MTM1
10 myopathy, myofibrillar, 3 35.4 TTN TRIM32 DMD CAPN3
11 myopathy, proximal, with ophthalmoplegia 35.4 RYR1 EMD COL6A1
12 reducing body myopathy 35.4 TTN NEB DMD
13 brody myopathy 35.3 RYR1 DMD CLCN1
14 myopathy, centronuclear, 1 35.3 RYR1 MTM1 DNM2
15 rigid spine muscular dystrophy 1 35.2 TTN RYR1 GAA DMD CAPN3
16 central core myopathy 35.2 RYR1 NEB MTM1 DNM2
17 myositis 35.1 TTN RYR1 NEB DMD CAPN3
18 miyoshi muscular dystrophy 35.1 TTN NEB GAA DMD CAPN3 ANO5
19 collagen vi-related myopathy 35.0 COL6A3 COL6A1
20 muscular dystrophy 35.0 TTN TRIM32 SCN4A RYR1 NEB GAA
21 reducing body myopathy 1a 35.0 TTN NEB EMD
22 polyglucosan body myopathy 1 with or without immunodeficiency 34.9 DMD CAPN3
23 myopathy, spheroid body 34.9 TRIM32 NEB
24 central core disease of muscle 34.8 RYR1 NEB GAA
25 hyaline body myopathy 34.8 TTN NEB
26 congenital structural myopathy 34.7 TTN RYR1 NEB MTM1
27 ullrich congenital muscular dystrophy 1 34.5 DMD COL6A3 COL6A1 CAPN3
28 tibial muscular dystrophy 34.5 TTN NEB DMD CAPN3
29 muscular disease 34.4 TTN RYR1 NEB MTM1 GAA EMD
30 muscular dystrophy, limb-girdle, autosomal recessive 8 34.4 TTN TRIM32 CAPN3
31 emery-dreifuss muscular dystrophy 2, autosomal dominant 34.3 TTN EMD DMD CAPN3
32 isolated elevated serum creatine phosphokinase levels 33.9 TTN SCN4A RYR1 GAA DMD CLCN1
33 muscular dystrophy, limb-girdle, autosomal recessive 2 33.7 TTN TRIM32 DMD CAPN3 ANO5
34 hypokalemic periodic paralysis, type 1 33.6 SCN4A RYR1 CLCN1
35 malignant hyperthermia 33.6 SCN4A RYR1 MTM1 DMD
36 muscular dystrophy, congenital, lmna-related 33.6 TTN EMD DMD COL6A3 COL6A1 CAPN3
37 glycogen storage disease ii 33.5 GAA DMD CAPN3
38 muscular dystrophy-dystroglycanopathy , type c, 5 33.5 TTN TRIM32 CAPN3 ANO5
39 neuromuscular disease 33.4 TTN SCN4A RYR1 NEB MTM1 GAA
40 autosomal recessive limb-girdle muscular dystrophy type 2h 33.4 TRIM32 CAPN3 ANO5
41 miyoshi muscular dystrophy 3 33.2 CAPN3 ANO5
42 ptosis 33.0 TTN SCN4A RYR1 MTM1 DNM2 DMD
43 muscular dystrophy, limb-girdle, autosomal recessive 7 33.0 TTN TRIM32 DMD CAPN3
44 muscular dystrophy, limb-girdle, autosomal recessive 6 33.0 TTN TRIM32 DMD CAPN3
45 autosomal recessive limb-girdle muscular dystrophy type 2c 32.9 DMD CAPN3 ANO5
46 limb-girdle muscular dystrophy 32.8 TTN TRIM32 EMD DMD CAPN3 ANO5
47 muscular dystrophy-dystroglycanopathy , type c, 4 32.8 TRIM32 CAPN3 ANO5
48 respiratory failure 32.8 TTN RYR1 GAA DMD ACADVL
49 hyperkalemic periodic paralysis 32.7 SCN4A CLCN1
50 atrial standstill 1 32.7 TTN GAA EMD DMD ACADVL

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

MGI Mouse Phenotypes related to Myopathy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.24 ACADVL ANO5 BICD2 CLCN1 COL6A1 COL6A3
2 growth/size/body region MP:0005378 10.13 ACADVL BICD2 CAPN3 CLCN1 COL6A1 COL6A3
3 cellular MP:0005384 10.06 ACADVL ANO5 BICD2 COL6A3 DMD DNM2
4 homeostasis/metabolism MP:0005376 10.03 ACADVL ANO5 CAPN3 CLCN1 COL6A1 DMD
5 muscle MP:0005369 9.86 ACADVL ANO5 CAPN3 CLCN1 COL6A1 COL6A3
6 skeleton MP:0005390 9.32 BICD2 CLCN1 COL6A1 COL6A3 DMD GAA

Drugs & Therapeutics for Myopathy

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

(show top 50) (show all 285)
# 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
Atorvastatin Approved Phase 4 134523-00-5 60823
16
Simvastatin Approved Phase 4 79902-63-9 54454
17
Pravastatin Approved Phase 4 81093-37-0 54687
18
Testosterone Approved, Experimental, Investigational Phase 4 58-22-0, 481-30-1 10204 6013
19
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0
20
Methyltestosterone Approved Phase 4 58-18-4 6010
21
Testosterone enanthate Approved Phase 4 315-37-7 9416
22
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
23
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
24
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
25
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
26
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 5280795 6221
27
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
28
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
29
Tenofovir Experimental, Investigational Phase 4 147127-20-6 464205
30 Ergocalciferols Phase 4
31 Vitamin D2 Phase 4
32 Platelet Aggregation Inhibitors Phase 4
33 Clofibric Acid Phase 4 882-09-7
34 Red Yeast Phase 4
35 Red yeast rice Phase 4
36 policosanol Phase 4
37 Neuromuscular Blocking Agents Phase 4
38 Immunoglobulins Phase 4
39 Antibodies Phase 4
40 Analgesics, Non-Narcotic Phase 4
41 Analgesics Phase 4
42 Immunologic Factors Phase 4
43 Antibodies, Monoclonal Phase 4
44 Angiotensin-Converting Enzyme Inhibitors Phase 4
45
protease inhibitors Phase 4
46 HIV Protease Inhibitors Phase 4
47 Amlodipine, atorvastatin drug combination Phase 4
48 Ezetimibe, Simvastatin Drug Combination Phase 4
49 Antipyretics Phase 4
50 Vasodilator Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 448)
# 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 A Randomized Control Trial of Vitamin D Prophylaxis in the Prevention of Hypertensive Disorders of Pregnancy Unknown status NCT02920593 Phase 4 Vitamin D3
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 Electrical Stimulation to Reduce Length of Stay and Duration of Intubation in the Neurosciences-intensive Care Unit (NSICU) Completed NCT03547687 Phase 4
11 Investigations on Differences in Atorvastatin Metabolites Ratios as a Diagnostic Tool in Detecting Atorvastatin Induced Myotoxicity Completed NCT00414531 Phase 4 Atorvastatin
12 Clonidine and the Skeletal Myopathy of Heart Failure Completed NCT00858845 Phase 4 Clonidine Patch
13 Effects of Vitamin D Supplementation in Vitamin D Deficient Obese Subject. Completed NCT01037140 Phase 4 Cholecalciferol;placebo
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 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)
16 Weaning Process in Elderly Intubated Patients Submitted to Inspiratory Muscle Training Completed NCT00922493 Phase 4
17 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
18 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
19 Characterizing Fade Upon Train-of Four Stimulation During Onset and Offset of Neuromuscular Block Produced by Succinlycholine Completed NCT02425449 Phase 4 Succinylcholine
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 Examining the Effect of Burosumab on Muscle Function Using MR Spectroscopy Recruiting NCT04146935 Phase 4 Burosumab Injection [Crysvita]
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 Near Infrared Spectroscopy to Diagnose Statin-Associated Muscle Symptoms Active, not recruiting NCT03653663 Phase 4 Simvastatin 20 mg;Placebo Oral Tablet
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 Inhaled Fluticasone Effects on Upper Airway Patency in Obstructive Lung Disease Terminated NCT01554488 Phase 4 Inhaled Fluticasone Propionate
33 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
34 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
35 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
36 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
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 Treatment of Ptosis to Muscular Dystrophy Oculopharyngeal by Myoblast Autologous Graft Unknown status NCT02878694 Phase 2, Phase 3
39 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
40 Anakinra in Patients With Refractory Idiopathic Inflammatory Myopathies Completed NCT01165008 Phase 2, Phase 3 Anakinra
41 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
42 An Open Trial With TNF Blockade With Infliximab (Remicade®), in Patients With Chronic Inflammatory Myopathies Completed NCT00443222 Phase 2, Phase 3 Infliximab
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 Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Completed NCT02090959 Phase 3 Ataluren
45 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
46 A Phase 3 Efficacy and Safety Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Completed NCT01826487 Phase 3 Ataluren;Placebo
47 Investigation of Kritech Efficacy on Subjects Having Functional Discomfort Associated to Joints and Muscles Disorders Completed NCT02318875 Phase 3
48 Effect of Vitamin D Supplementation on Exercise Adaptations in Patients on Statin Therapy Completed NCT02030041 Phase 3 Vitamin D;Simvastatin;Placebo
49 Effects of Growth Hormone on Corticoid Myopathy in Children With Chronic Disease: Effects on Muscle Mass and Strength Completed NCT00813189 Phase 3
50 Deflazacort in Dysferlinopathies (LGMD2B/MM) - a Double Blind, Placebo-controlled Clinical Study Completed NCT00527228 Phase 2, Phase 3 deflazacort;placebo

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

Genetic tests related to Myopathy:

# Genetic test Affiliating Genes
1 Myopathy 29

Anatomical Context for Myopathy

MalaCards organs/tissues related to Myopathy:

40
Skeletal Muscle, Heart, Testes, Lung, Bone, 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 24323)
# Title Authors PMID Year
1
A novel myopathy-associated mitochondrial DNA mutation altering the conserved size of the tRNA(Gln) anticodon loop. 6 61
10996779 2000
2
A mitochondrial tRNA anticodon swap associated with a muscle disease. 61 6
7689388 1993
3
Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency. 61 54
20376488 2010
4
Role of thrombospondin 1 in macrophage inflammation in dysferlin myopathy. 61 54
20467328 2010
5
Calsequestrin and junctin immunoreactivity in hexagonally cross-linked tubular arrays myopathy. 61 54
20211563 2010
6
Myopathy and parkinsonism in phosphoglycerate kinase deficiency. 54 61
20151463 2010
7
Pathogenesis of thyroid-associated ophthalmopathy: does autoimmunity against calsequestrin and collagen XIII play a role? 54 61
20505833 2010
8
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
9
Approach to the patient who is intolerant of statin therapy. 54 61
20444930 2010
10
A randomized study of alglucosidase alfa in late-onset Pompe's disease. 61 54
20393176 2010
11
The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy. 54 61
20171888 2010
12
Divergent molecular effects of desmin mutations on protein assembly in myofibrillar myopathy. 61 54
20448486 2010
13
[Myosin storage myopathy: a rare subtype of protein aggregate myopathies]. 61 54
20376763 2010
14
MRI in lipid-lowering agent-associated myopathy: a retrospective review of 21 cases. 61 54
20308477 2010
15
Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1. 61 54
20303757 2010
16
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
17
Homozygotic intronic GAA mutation in three siblings with late-onset Pompe's disease. 61 54
20464284 2010
18
Physiological significance of selective degradation of p62 by autophagy. 61 54
20153326 2010
19
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
20
Two novel mutations in thymidine kinase-2 cause early onset fatal encephalomyopathy and severe mtDNA depletion. 61 54
20083405 2010
21
[Statins and muscular side-effects]. 61 54
20373698 2010
22
Pitavastatin: a new HMG-CoA reductase inhibitor. 54 61
20179258 2010
23
Desmin myopathy with severe cardiomyopathy in a Uruguayan family due to a codon deletion in a new location within the desmin 1A rod domain. 61 54
20133133 2010
24
Muscle toxicity with statins. 54 61
20014178 2010
25
Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene. 61 54
20080402 2010
26
Dysferlin overexpression in skeletal muscle produces a progressive myopathy. 61 54
20373350 2010
27
Muscle phosphorylase b kinase deficiency revisited. 61 54
20080404 2010
28
Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations. 54 61
19758981 2010
29
Bezafibrate induces myotoxicity in human rhabdomyosarcoma cells via peroxisome proliferator-activated receptor alpha signaling. 61 54
19683050 2010
30
Skeletal muscle cell MHC I expression: implications for statin-induced myopathy. 61 54
19813190 2010
31
Muscle inactivation of mTOR causes metabolic and dystrophin defects leading to severe myopathy. 54 61
20008564 2009
32
[McArdle disease revealed by exercise intolerance associated with severe rhabdomyolysis]. 61 54
19878922 2009
33
Neuroleptic malignant syndrome or a statin drug reaction? A case report. 54 61
19952877 2009
34
Selenoprotein function and muscle disease. 54 61
19285112 2009
35
Valosin containing protein associated inclusion body myopathy: abnormal vacuolization, autophagy and cell fusion in myoblasts. 61 54
19828315 2009
36
Muscle MRI in FHL1-linked reducing body myopathy. 54 61
19616434 2009
37
The SLCO1B1*5 genetic variant is associated with statin-induced side effects. 61 54
19833260 2009
38
Impact of OATP transporters on pharmacokinetics. 61 54
19785645 2009
39
Hereditary inclusion-body myopathy: clues on pathogenesis and possible therapy. 54 61
19618441 2009
40
Novel DYSF mutations in Thai patients with distal myopathy. 61 54
19493611 2009
41
High aldolase with normal creatine kinase in serum predicts a myopathy with perimysial pathology. 54 61
19240048 2009
42
Pattern of skeletal muscle involvement in primary dysferlinopathies: a whole-body 3.0-T magnetic resonance imaging study. 54 61
19154541 2009
43
Consequences of mutations within the C terminus of the FHL1 gene. 54 61
19687455 2009
44
Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease. 54 61
19587455 2009
45
Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin. 54 61
19433360 2009
46
Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment. 54 61
19557870 2009
47
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
48
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
49
In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy. 61 54
19050726 2009
50
Muscle hypertrophy driven by myostatin blockade does not require stem/precursor-cell activity. 61 54
19383783 2009

Variations for Myopathy

ClinVar genetic disease variations for Myopathy:

6 (show top 50) (show all 71) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EMD NM_000117.2(EMD):c.184dup (p.Ser62fs)duplication Pathogenic 523333 rs1557182317 X:153608150-153608151 X:154379790-154379791
2 CDRT4 , HS3ST3B1 , PMP22 , TEKT3 , TVP23C , TVP23C-CDRT4 GRCh37/hg19 17p12(chr17:14215739-15422582)copy number loss Pathogenic 523238 17:14215739-15422582
3 CDRT4 , HS3ST3B1 , PMP22 , TEKT3 , TVP23C , TVP23C-CDRT4 GRCh37/hg19 17p12(chr17:14215739-15422582)copy number loss Pathogenic 523259 17:14215739-15422582
4 BICD2 NM_001003800.2(BICD2):c.2239C>T (p.Arg747Cys)SNV Pathogenic 637067 9:95480098-95480098 9:92717816-92717816
5 DMD NM_000109.4(DMD):c.7556T>A (p.Leu2519Ter)SNV Pathogenic 689572 X:31747828-31747828 X:31729711-31729711
6 MTM1 NC_000023.11:g.150583230_150648535deldeletion Pathogenic 812933 X:149751687-149817005
7 UNC45B NM_001267052.2(UNC45B):c.2255G>A (p.Arg752Gln)SNV Pathogenic 834072 rs139715157 17:33504629-33504629 17:35177610-35177610
8 GAA NM_000152.5(GAA):c.-32-13T>GSNV Pathogenic 4027 rs386834236 17:78078341-78078341 17:80104542-80104542
9 SCN4A NM_000334.4(SCN4A):c.2024G>A (p.Arg675Gln)SNV Pathogenic 5919 rs121908557 17:62034874-62034874 17:63957514-63957514
10 DNM2 NM_001005360.2(DNM2):c.1102G>A (p.Glu368Lys)SNV Pathogenic 7282 rs121909092 19:10904505-10904505 19:10793829-10793829
11 TRIM32 NM_001365068.1(ASTN2):c.2806+26570C>TSNV Pathogenic 7350 rs111033570 9:119461480-119461480 9:116699201-116699201
12 MT-TP m.15990C>TSNV Pathogenic 9570 rs199474699 MT:15990-15990 MT:15990-15990
13 MT-TQ m.4369_4370insAduplication Pathogenic 9614 rs199476140 MT:4365-4366 MT:4365-4366
14 CAPN3 NM_000070.3(CAPN3):c.550del (p.Thr184fs)deletion Pathogenic 17621 rs80338800 15:42680001-42680001 15:42387803-42387803
15 TTN NM_001267550.2(TTN):c.42482_42485TTGT[1] (p.Cys14163fs)short repeat Pathogenic 212468 rs797046064 2:179498737-179498740 2:178634010-178634013
16 TTN NM_001267550.2(TTN):c.23903_23904delinsA (p.Gly7968fs)indel Pathogenic 212463 rs797046060 2:179584315-179584316 2:178719588-178719589
17 COL6A3 NM_004369.3(COL6A3):c.6181C>T (p.Arg2061Ter)SNV Pathogenic 210752 rs797045479 2:238269793-238269793 2:237361150-237361150
18 RYR1 NM_000540.2(RYR1):c.1878_1882del (p.Pro626_Gly627insTer)deletion Pathogenic 212098 rs797045931 19:38948220-38948224 19:38457580-38457584
19 RYR1 NM_000540.2(RYR1):c.2505del (p.Pro836fs)deletion Pathogenic 212099 rs797045932 19:38951155-38951155 19:38460515-38460515
20 RYR1 NM_000540.2(RYR1):c.3381+1G>ASNV Pathogenic 212103 rs797045934 19:38958453-38958453 19:38467813-38467813
21 RYR1 NM_000540.2(RYR1):c.8724C>A (p.Tyr2908Ter)SNV Pathogenic 212107 rs797045935 19:38997500-38997500 19:38506860-38506860
22 COL6A1 NM_001848.2(COL6A1):c.1003-2A>GSNV Pathogenic 210745 rs797045477 21:47410685-47410685 21:45990771-45990771
23 TTN NM_001267550.2(TTN):c.74567G>A (p.Trp24856Ter)SNV Pathogenic 374037 rs1057518851 2:179436292-179436292 2:178571565-178571565
24 DMD NM_004006.2(DMD):c.5699T>G (p.Leu1900Ter)SNV Pathogenic 374059 rs1057518866 X:32361291-32361291 X:32343174-32343174
25 ACADVL NM_000018.4(ACADVL):c.1358G>A (p.Arg453Gln)SNV Pathogenic/Likely pathogenic 374123 rs138058572 17:7127312-7127312 17:7223993-7223993
26 ACADVL NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln)SNV Pathogenic/Likely pathogenic 203585 rs751995154 17:7127330-7127330 17:7224011-7224011
27 CLCN1 NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)SNV Pathogenic/Likely pathogenic 17545 rs55960271 7:143048771-143048771 7:143351678-143351678
28 ANO5 NM_001142649.2(ANO5):c.188dup (p.Asn63fs)duplication Pathogenic/Likely pathogenic 2164 rs137854521 11:22242646-22242647 11:22221100-22221101
29 TTN NM_001267550.2(TTN):c.35265dup (p.Pro11756fs)duplication Likely pathogenic 523429 rs1198364572 2:179535859-179535860 2:178671132-178671133
30 CAPN3 NM_000070.3(CAPN3):c.632+5G>ASNV Likely pathogenic 523316 rs1555420508 15:42680089-42680089 15:42387891-42387891
31 SFTPC NM_003018.4(SFTPC):c.163C>T (p.Leu55Phe)SNV Likely pathogenic 598978 rs1563221666 8:22020207-22020207 8:22162694-22162694
32 RAPSN NM_005055.5(RAPSN):c.490C>T (p.Arg164Cys)SNV Likely pathogenic 8054 rs104894294 11:47469405-47469405 11:47447853-47447853
33 MYH7 NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys)SNV Likely pathogenic 164324 rs2754158 14:23894085-23894085 14:23424876-23424876
34 TPM3 NM_152263.4(TPM3):c.734G>T (p.Arg245Ile)SNV Likely pathogenic 212412 rs797046047 1:154142917-154142917 1:154170441-154170441
35 MYH7 NM_000257.4(MYH7):c.4886T>C (p.Leu1629Pro)SNV Likely pathogenic 211558 rs797045730 14:23885280-23885280 14:23416071-23416071
36 DPM3 NM_153741.2(DPM3):c.137T>A (p.Leu46Gln)SNV Likely pathogenic 374109 rs1057518905 1:155112580-155112580 1:155140104-155140104
37 COL6A2 NM_001849.3(COL6A2):c.892G>A (p.Gly298Arg)SNV Likely pathogenic 210750 rs797045478 21:47535959-47535959 21:46116045-46116045
38 ANO5 NM_213599.2(ANO5):c.2029+2dupduplication Likely pathogenic 374043 rs1057518855 11:22291989-22291990 11:22270443-22270444
39 DMD NM_004010.3(DMD):c.-193deldeletion Likely pathogenic 374010 rs1057518834 X:32867854-32867854 X:32849737-32849737
40 RYR1 NM_000540.2(RYR1):c.1186G>A (p.Glu396Lys)SNV Likely pathogenic 374199 rs774919231 19:38942467-38942467 19:38451827-38451827
41 RYR1 NM_000540.2(RYR1):c.8463G>A (p.Trp2821Ter)SNV Likely pathogenic 373926 rs1057518773 19:38996508-38996508 19:38505868-38505868
42 RYR1 NM_000540.2(RYR1):c.3235_3240dup (p.Ser1079_Tyr1080dup)duplication Likely pathogenic 212102 rs797045933 19:38958305-38958306 19:38467665-38467666
43 DYNC1H1 NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys)SNV Conflicting interpretations of pathogenicity 374099 rs879253979 14:102446288-102446288 14:101979951-101979951
44 DYNC1H1 NM_001376.5(DYNC1H1):c.5311G>A (p.Gly1771Arg)SNV Conflicting interpretations of pathogenicity 373991 rs139842853 14:102471451-102471451 14:102005114-102005114
45 RYR1 NM_000540.2(RYR1):c.844C>T (p.Arg282Trp)SNV Conflicting interpretations of pathogenicity 374200 rs1057518970 19:38939038-38939038 19:38448398-38448398
46 COL6A2 NM_001849.3(COL6A2):c.2633C>T (p.Ala878Val)SNV Conflicting interpretations of pathogenicity 210748 rs774521989 21:47552039-47552039 21:46132125-46132125
47 ANO5 NM_213599.2(ANO5):c.1664G>T (p.Ser555Ile)SNV Conflicting interpretations of pathogenicity 286450 rs375014127 11:22283708-22283708 11:22262162-22262162
48 RYR1 NM_001042723.2(RYR1):c.2654G>A (p.Arg885His)SNV Conflicting interpretations of pathogenicity 212100 rs370634440 19:38954139-38954139 19:38463499-38463499
49 TTN NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn)SNV Conflicting interpretations of pathogenicity 191971 rs201257644 2:179500777-179500777 2:178636050-178636050
50 TTN NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter)SNV Conflicting interpretations of pathogenicity 202529 rs757082154 2:179392218-179392218 2:178527491-178527491

Copy number variations for Myopathy from CNVD:

7
# 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

GO Terms for Myopathy

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

# Name GO ID Score Top Affiliating Genes
1 cell GO:0005623 9.91 TRIM32 RYR1 MTM1 GAA DNM2 DMD
2 sarcomere GO:0030017 9.58 TTN NEB MTM1
3 myofibril GO:0030016 9.5 NEB DMD CAPN3
4 Z disc GO:0030018 9.35 TTN RYR1 NEB DMD CAPN3
5 I band GO:0031674 9.33 TTN RYR1 MTM1
6 collagen type VI trimer GO:0005589 9.26 COL6A3 COL6A1
7 sarcolemma GO:0042383 9.02 RYR1 DMD COL6A3 COL6A1 CLCN1

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

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.55 TTN SCN4A RYR1 EMD CLCN1
2 cardiac muscle contraction GO:0060048 9.5 TTN GAA DMD
3 positive regulation of proteolysis GO:0045862 9.46 TRIM32 CAPN3
4 striated muscle contraction GO:0006941 9.43 TTN GAA
5 muscle filament sliding GO:0030049 9.43 TTN NEB DMD
6 muscle organ development GO:0007517 9.43 UNC45B NEB EMD DMD COL6A3 CAPN3
7 muscle fiber development GO:0048747 9.4 NEB DMD
8 growth plate cartilage chondrocyte morphogenesis GO:0003429 9.37 COL6A3 COL6A1
9 muscle cell cellular homeostasis GO:0046716 9.02 TRIM32 MTM1 GAA DMD CAPN3

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

# Name GO ID Score Top Affiliating Genes
1 myosin binding GO:0017022 9.16 TRIM32 DMD
2 nitric-oxide synthase binding GO:0050998 8.96 DNM2 DMD
3 structural constituent of muscle GO:0008307 8.92 TTN NEB DMD CAPN3

Sources for Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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