MCID: MYP004
MIFTS: 67

Myopathy

Categories: 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 batten-turner congenital myopathy and bethlem myopathy 1, and has symptoms including muscle weakness, myoclonus and back pain. An important gene associated with Myopathy is RYR1 (Ryanodine Receptor 1), and among its related pathways/superpathways is Dilated cardiomyopathy. The drugs Bezafibrate and Clonidine have been mentioned in the context of this disorder. Affiliated tissues include Placenta, skeletal muscle and thyroid, and related phenotypes are behavior/neurological and cardiovascular system

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

Wikipedia : 73 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 Benign Autosomal Dominant Myopathy

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

(show top 50) (show all 1896)
# Related Disease Score Top Affiliating Genes
1 batten-turner congenital myopathy 34.1 TTN-AS1 TTN RYR1 MYH7 MTM1 GAA
2 bethlem myopathy 1 34.1 RYR1 MYH7 EMD DMD COL6A3 COL6A1
3 nonaka myopathy 34.0 UNC45B TTN DMD CAPN3
4 myofibrillar myopathy 34.0 UNC45B TTN-AS1 TTN MYH7 DNM2 DMD
5 centronuclear myopathy 34.0 TTN-AS1 TTN RYR1 MTM1 DNM2 DMD
6 myopathy, centronuclear, x-linked 33.8 TTN RYR1 MTM1 DNM2
7 myopathy, myofibrillar, 9, with early respiratory failure 33.8 TTN-AS1 TTN MYH7 CAPN3
8 muscular dystrophy 33.7 TTN-AS1 TTN TRIM32 SCN4A RYR1 MYH7
9 congenital fiber-type disproportion 33.7 TTN RYR1 MYH7 MTM1 EMD DNM2
10 myopathy, distal, 1 33.6 TTN RYR1 MYH7
11 rigid spine muscular dystrophy 1 33.6 TTN RYR1 MYH7 GAA EMD DMD
12 myopathy, centronuclear, 2 33.6 TTN RYR1 MTM1 DNM2
13 myositis 33.5 TTN RYR1 DMD CAPN3
14 myopathy, myofibrillar, 1 33.5 TTN DMD CAPN3
15 miyoshi muscular dystrophy 33.5 TTN MYH7 DMD CAPN3 ANO5
16 myopathy, centronuclear, 1 33.4 RYR1 MTM1 DNM2
17 polyglucosan body myopathy 1 with or without immunodeficiency 33.3 SCN4A RYR1 DMD CAPN3
18 multiminicore disease 33.3 TTN-AS1 TTN RYR1
19 myopathy, myofibrillar, 3 33.3 TTN DMD CAPN3
20 tibial muscular dystrophy 33.2 TTN-AS1 TTN MYH7 DMD CAPN3 ANO5
21 muscular dystrophy, limb-girdle, autosomal recessive 8 33.2 TTN TRIM32 CAPN3 ASTN2
22 collagen vi-related myopathy 33.1 COL6A3 COL6A1
23 salih myopathy 33.1 TTN-AS1 TTN
24 reducing body myopathy 33.1 TTN DMD
25 central core disease of muscle 33.0 RYR1 GAA
26 muscular disease 33.0 TTN RYR1 MYH7 MTM1 EMD DMD
27 ullrich congenital muscular dystrophy 1 32.9 DMD COL6A3 COL6A1 CAPN3
28 emery-dreifuss muscular dystrophy 2, autosomal dominant 32.9 TTN EMD DMD CAPN3
29 congenital structural myopathy 32.7 TTN RYR1 MYH7 MTM1
30 neuromuscular disease 32.7 TTN-AS1 TTN SCN4A RYR1 MYH7 MTM1
31 muscular dystrophy, limb-girdle, autosomal recessive 2 32.6 TTN TRIM32 GAA DMD CAPN3 ANO5
32 malignant hyperthermia 32.6 SCN4A RYR1 MYH7 DMD
33 glycogen storage disease ii 32.6 GAA DMD CAPN3 ANO5
34 autosomal dominant distal myopathy 32.5 TTN-AS1 TTN MYH7 DMD
35 respiratory failure 32.5 TTN-AS1 TTN RYR1 MYH7 MTM1 GAA
36 muscular dystrophy, congenital, lmna-related 32.4 TTN-AS1 TTN RYR1 MYH7 EMD DMD
37 autosomal recessive limb-girdle muscular dystrophy type 2h 32.3 TRIM32 CAPN3 ANO5
38 dilated cardiomyopathy 32.3 TTN-AS1 TTN MYH7 MTM1 GAA EMD
39 muscular dystrophy-dystroglycanopathy , type c, 5 32.3 TTN TRIM32 CAPN3 ANO5
40 muscular dystrophy, limb-girdle, autosomal recessive 7 32.3 TTN TRIM32 DMD CAPN3
41 atrial standstill 1 32.3 TTN-AS1 TTN MYH7 GAA EMD DMD
42 ptosis 32.2 SCN4A RYR1 MTM1 DNM2 DMD
43 muscular dystrophy, limb-girdle, autosomal recessive 6 32.2 TTN TRIM32 DMD CAPN3
44 autosomal recessive limb-girdle muscular dystrophy type 2c 32.2 DMD CAPN3 ANO5
45 limb-girdle muscular dystrophy 32.2 TTN-AS1 TTN TRIM32 CAPN3 ASTN2
46 hyperkalemic periodic paralysis 32.2 SCN4A RYR1 GH-LCR
47 hypokalemic periodic paralysis, type 1 32.2 SCN4A RYR1 GH-LCR
48 muscular dystrophy, limb-girdle, autosomal recessive 4 32.2 TTN TRIM32 CAPN3
49 hypertrophic cardiomyopathy 32.2 TTN-AS1 TTN MYH7 GAA EMD DMD
50 miyoshi muscular dystrophy 3 31.9 CAPN3 ANO5

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; back pain; myalgia; torticollis; sciatica; muscle cramp; joint symptom; muscle rigidity; muscle spasticity; spasmodic torticollis; musculoskeletal symptom; leg cramps

MGI Mouse Phenotypes related to Myopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 ANO5 COL6A1 COL6A3 DMD DNM2 EMD
2 cardiovascular system MP:0005385 9.85 ANO5 CAPN3 DMD DNM2 EMD GAA
3 homeostasis/metabolism MP:0005376 9.77 ANO5 CAPN3 COL6A1 DMD DNM2 EMD
4 muscle MP:0005369 9.47 ANO5 CAPN3 COL6A1 COL6A3 DMD DNM2

Drugs & Therapeutics for Myopathy

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

(show top 50) (show all 160)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bezafibrate Approved, Investigational Phase 4 41859-67-0 39042
2
Clonidine Approved Phase 4 4205-90-7 2803
3
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
4
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
5
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
6
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
7
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
8
Sodium citrate Approved, Investigational Phase 4 68-04-2
9
Pravastatin Approved Phase 4 81093-37-0 54687
10
Atorvastatin Approved Phase 4 134523-00-5 60823
11
Methyltestosterone Approved Phase 4 58-18-4 6010
12
Testosterone Approved, Investigational Phase 4 58-22-0 6013
13
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0
14
Testosterone enanthate Approved Phase 4 315-37-7 9416
15
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
16
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
17 carnitine Phase 4
18 Clofibric Acid Phase 4 882-09-7
19 Neurotransmitter Agents Phase 4
20 Analgesics Phase 4
21 Adrenergic alpha-Agonists Phase 4
22 Adrenergic Agonists Phase 4
23 Antihypertensive Agents Phase 4
24 Sympatholytics Phase 4
25 Adrenergic Agents Phase 4
26 Protective Agents Phase 4
27 Vasodilator Agents Phase 4
28 Anti-Inflammatory Agents Phase 4
29 glucocorticoids Phase 4
30 Neuroprotective Agents Phase 4
31 Methylprednisolone Acetate Phase 4
32 Gastrointestinal Agents Phase 4
33 Antineoplastic Agents, Hormonal Phase 4
34 Antiemetics Phase 4
35 Citrate Phase 4
36 Phosphodiesterase Inhibitors Phase 4
37 Phosphodiesterase 5 Inhibitors Phase 4
38 Sildenafil Citrate Phase 4 171599-83-0
39 Rosuvastatin Calcium Phase 4 147098-20-2
40 Hormones Phase 4
41 Hormone Antagonists Phase 4
42 Calcium, Dietary Phase 4
43 Testosterone 17 beta-cypionate Phase 4
44 Androgens Phase 4
45
Calcium Nutraceutical Phase 4 7440-70-2 271
46
Valproic acid Approved, Investigational Phase 3 99-66-1 3121
47
Infliximab Approved Phase 2, Phase 3 170277-31-3
48
Acetylcholine Approved, Investigational Phase 3 51-84-3 187
49
Abatacept Approved Phase 3 332348-12-6 10237
50
Zoledronic Acid Approved Phase 3 118072-93-8 68740

Interventional clinical trials:

(show top 50) (show all 246)
# 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 Association Between Systemic Exposure of Atorvastatin and Metabolites and Atorvastatin-induced Myotoxicity Completed NCT00120055 Phase 4 Atorvastatin (Lipitor)
3 The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM) Completed NCT01527318 Phase 4 Fibrate treatment
4 Clonidine and the Skeletal Myopathy of Heart Failure Completed NCT00858845 Phase 4 Clonidine Patch
5 Investigations on Differences in Atorvastatin Metabolite Ratios as a Diagnostic Tool in Detecting Atorvastatin Induced Myotoxicity Completed NCT00199745 Phase 4 atorvastatin
6 Near Infrared Spectroscopy to Diagnose Statin-Associated Muscle Symptoms Active, not recruiting NCT03653663 Phase 4 Simvastatin 20 mg;Placebo Oral Tablet
7 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)
8 Quality of Life and Metabolic Alterations in Patients With Statin-Associated Myopathy Terminated NCT00850460 Phase 4 Statins;Placebo
9 Double Blind, Prospective Randomized, Crossover Study of Patients With Muscle Complaints on Statin Therapy Terminated NCT00127335 Phase 4 cellulose placebo vs. atorvastatin
10 Testosterone Replacement for Older Men With Sarcopenia Terminated NCT00240981 Phase 4 Topical testosterone gel 1% (active formulation);Topical gel (placebo formulation)
11 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
12 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
13 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
14 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
15 An Open Trial With TNF Blockade With Infliximab (Remicade®), in Patients With Chronic Inflammatory Myopathies Completed NCT00443222 Phase 2, Phase 3 Infliximab
16 Anakinra in Patients With Refractory Idiopathic Inflammatory Myopathies Completed NCT01165008 Phase 2, Phase 3 Anakinra
17 Effects of Growth Hormone on Corticoid Myopathy in Children With Chronic Disease: Effects on Muscle Mass and Strength Completed NCT00813189 Phase 3
18 A Phase 3 Efficacy and Safety Study of Ataluren in Patients With Nonsense Mutation Dystrophinopathy Completed NCT01826487 Phase 3 Ataluren;Placebo
19 Investigation of Kritech Efficacy on Subjects Having Functional Discomfort Associated to Joints and Muscles Disorders Completed NCT02318875 Phase 3
20 Electromyographic Study for the Help and Guidance of BoNTA Administration in the Treatment of Chronic Pelvic Floor Pain Completed NCT03715777 Phase 3 Clostridium botulinum type A (BoNTA)
21 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
22 Efficacy Confirmation Study of NPC-09 Recruiting NCT04671472 Phase 3 NPC-09;NPC-09 placebo
23 A Phase 3, Randomized, Double-Blind Clinical Trial to Evaluate the Efficacy and Safety of Abatacept SC With Standard Treatment Compared to Standard Treatment Alone in Improving Disease Activity in Adults With Active Idiopathic Inflammatory Myopathy (IIM) Active, not recruiting NCT02971683 Phase 3 Abatacept subcutaneous;Placebo
24 A Phase 3, Randomized, Double-blind, Placebo-controlled Efficacy and Safety Study of Ataluren in Patients With Nonsense Mutation Duchenne Muscular Dystrophy and Open-Label Extension Active, not recruiting NCT03179631 Phase 3 Ataluren;PLACEBO
25 Efficacy of Denosumab and Zoledronic Acid in the Treatment of Idiopathic Inflammatory Myopathies Related Reduced Bone Mineral Density: a Prospective Controlled Trial Not yet recruiting NCT04034199 Phase 3 Denosumab;Zoledronic Acid
26 A Randomized, Double-blind, Placebo-controlled Adaptive Phase 2/3 Study With Open-label Extension to Assess the Efficacy, Safety and Tolerability of ASP0367 in Participants With Primary Mitochondrial Myopathy Not yet recruiting NCT04641962 Phase 3 ASP0367;Placebo
27 A Double-blind, Placebo-controlled Study to Evaluate the Efficacy and Safety of 24 Weeks Treatment With REN001 in Patients With Primary Mitochondrial Myopathy Not yet recruiting NCT04535609 Phase 2, Phase 3 REN001;Placebo
28 Pharmacological Treatment of a Rare Genetic Disease: Pilot Trial Phase II-III With N-acetylcysteine in Myopathy Associated SEPN1-RM (Selenoprotein N-related Myopathy) Terminated NCT02505087 Phase 2, Phase 3 N-Acetylcysteine followed by Placebo;Placebo followed by N-Acetylcysteine
29 Phase 3B Open-Label Extension Study to Evaluate the Safety and Efficacy of Aceneuramic Acid Extended-Release (Ace-ER) Tablets in Patients With GNE Myopathy (GNEM) or Hereditary Inclusion Body Myopathy (HIBM) Terminated NCT02736188 Phase 3 Aceneuramic Acid Extended-Release Tablets
30 A Phase 3 Randomized, Placebo-Controlled Trial to Evaluate the Efficacy and Safety of Daily Subcutaneous Injections of Elamipretide in Subjects With Primary Mitochondrial Myopathy Followed by an Open-Label Treatment Extension Terminated NCT03323749 Phase 3
31 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 Terminated NCT02829814 Phase 3 TNX-102 SL Tablet, 2.8 mg;Placebo SL Tablet
32 A Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Terminated NCT02090959 Phase 3 Ataluren
33 Electrical Muscle Stimulation (EMS), a Preventive and Therapeutic Tool for Critical Illness Polyneuromyopathy (CIPNM)- A Randomized Controlled Parallel Intervention Trial. Unknown status NCT00882830 Phase 2
34 Exercise Training and Deconditions: Implications for Therapy in Mitochondrial Myopathy Unknown status NCT00457314 Phase 2
35 Treatment of TNNT1-Myopathy With L-Tyrosine. A Double-blind, Placebo-controlled Crossover Trial. Unknown status NCT02035501 Phase 2 L-Tyrosine;Placebo
36 The Effects of Electrical Muscle Stimulation (EMS) on Muscle Atrophy and Functional Outcomes in Critically Ill Patients; a Pilot Randomized Controlled Trial Completed NCT01637467 Phase 1, Phase 2
37 An Open-label Phase 2 Extension Study to Evaluate the Long Term Safety and Efficacy of Sialic Acid-Extended Release (SA-ER) Tablets and Sialic Acid-Immediate Release (SA-IR) Capsules in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy Completed NCT01830972 Phase 2 SA-ER 500 mg;SA-IR 500 mg
38 A Phase 2 Randomized, Double-Blind, Placebo-Controlled, Parallel Group Study to Evaluate the Dose and Pharmacodynamic Efficacy of Sialic Acid-Extended Release (SA-ER) Tablets in Patients With GNE Myopathy or Hereditary Inclusion Body Myopathy Completed NCT01517880 Phase 2 Sialic Acid Extended Release (SA-ER);Placebo
39 A Phase 2 Study of the Safety, Efficacy, and Pharmacodynamics of RTA 408 in the Treatment of Mitochondrial Myopathy (MOTOR) Completed NCT02255422 Phase 2 Omaveloxolone capsules, 2.5 mg;omaveloxolone capsules, 5 mg;omaveloxolone capsules, 10 mg;Placebo capsules;omaveloxolone capsules, 20 mg;omaveloxolone capsules, 40 mg;omaveloxolone capsules, 80 mg;omaveloxolone capsules, 160 mg
40 Low Protein Diet to Correct Defective Autophagy in Patients With Collagen VI Related Myopathies Completed NCT01438788 Phase 2
41 Phase 1/2 Randomized, Double-Blind, Placebo-Controlled, Multiple Ascending-Dose Clinical Study for the Safety, Tolerability, and Efficacy of IV MTP-131 for Mitochondrial Myopathy in Genetically Confirmed Mitochondrial Disease Completed NCT02367014 Phase 1, Phase 2 elamipretide (low dose);elamipretide (intermediate dose);elamipretide (high dose);Placebo
42 An Open-Label Phase 2 Study of ManNAc in Subjects With GNE Myopathy Completed NCT02346461 Phase 2 ManNAc;ManNAc
43 A Phase 2 Pilot Physiological Randomised Clinical Trial to Investigate the Effect of Intermittent Versus Continuous Enteral Nutrition on Muscle Wasting in Critical Illness Completed NCT02358512 Phase 2
44 Antioxidant Therapy in RYR1-Related Congenital Myopathy Completed NCT02362425 Phase 1, Phase 2 N-acetylcysteine;Placebo
45 The Efficacy of High-Dose Intravenous Immunoglobulin in Patients With Inflammatory Myopathies: A Three Month Randomized Trial With Option for Cross-Over Completed NCT00001261 Phase 2 Gamma Globulin
46 FORCE: Rituximab (CD 20+-B Cell-depleting Monoclonal Antibody) for the Treatment of Refractory Inflammatory Myopathies With Specific Antibodies and Refractory Myasthenia Gravis Completed NCT00774462 Phase 2 Rituximab
47 A Phase 2 Randomized, Double-Blind, Placebo-Controlled Crossover Study to Evaluate Safety, Tolerability, and Efficacy of Subcutaneous Injections of MTP-131 in Subjects With Mitochondrial Myopathy Previously Treated in the SPIMM-201 Study Completed NCT02805790 Phase 2 Elamipretide;Placebo
48 A Feasibility Study of Bezafibrate in Mitochondrial Myopathy Completed NCT02398201 Phase 2 Bezafibrate
49 Rituximab Therapy in Refractory Adult and Juvenile Idiopathic Inflammatory Myopathy (IIM) Completed NCT00106184 Phase 2 Rituximab;Placebo
50 Feasibility and Impact of Qigong as Compared to Aerobic Exercise in the Treatment of Childhood Chronic Musculoskeletal Pain: A Pilot Randomized Controlled Trial. Completed NCT00312234 Phase 2

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, Thyroid, Skin, Eye, Smooth Muscle, Breast, Spinal Cord
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 25432)
# Title Authors PMID Year
1
A novel myopathy-associated mitochondrial DNA mutation altering the conserved size of the tRNA(Gln) anticodon loop. 61 6
10996779 2000
2
A mitochondrial tRNA anticodon swap associated with a muscle disease. 61 6
7689388 1993
3
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
4
[The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis]. 6
19065518 2008
5
New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. 6
15596759 2004
6
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
7
Role of thrombospondin 1 in macrophage inflammation in dysferlin myopathy. 61 54
20467328 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
Myopathy and parkinsonism in phosphoglycerate kinase deficiency. 54 61
20151463 2010
10
Pathogenesis of thyroid-associated ophthalmopathy: does autoimmunity against calsequestrin and collagen XIII play a role? 61 54
20505833 2010
11
Calsequestrin and junctin immunoreactivity in hexagonally cross-linked tubular arrays myopathy. 61 54
20211563 2010
12
Approach to the patient who is intolerant of statin therapy. 61 54
20444930 2010
13
[Myosin storage myopathy: a rare subtype of protein aggregate myopathies]. 61 54
20376763 2010
14
A randomized study of alglucosidase alfa in late-onset Pompe's disease. 61 54
20393176 2010
15
Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1. 61 54
20303757 2010
16
Divergent molecular effects of desmin mutations on protein assembly in myofibrillar myopathy. 54 61
20448486 2010
17
Selenoproteins and protection against oxidative stress: selenoprotein N as a novel player at the crossroads of redox signaling and calcium homeostasis. 61 54
19769461 2010
18
MRI in lipid-lowering agent-associated myopathy: a retrospective review of 21 cases. 61 54
20308477 2010
19
Physiological significance of selective degradation of p62 by autophagy. 61 54
20153326 2010
20
Homozygotic intronic GAA mutation in three siblings with late-onset Pompe's disease. 61 54
20464284 2010
21
The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy. 54 61
20171888 2010
22
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. 61 54
20302629 2010
23
Two novel mutations in thymidine kinase-2 cause early onset fatal encephalomyopathy and severe mtDNA depletion. 54 61
20083405 2010
24
Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene. 61 54
20080402 2010
25
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
26
Pitavastatin: a new HMG-CoA reductase inhibitor. 61 54
20179258 2010
27
Muscle toxicity with statins. 54 61
20014178 2010
28
[Statins and muscular side-effects]. 54 61
20373698 2010
29
Dysferlin overexpression in skeletal muscle produces a progressive myopathy. 54 61
20373350 2010
30
Muscle phosphorylase b kinase deficiency revisited. 61 54
20080404 2010
31
Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations. 61 54
19758981 2010
32
Bezafibrate induces myotoxicity in human rhabdomyosarcoma cells via peroxisome proliferator-activated receptor alpha signaling. 54 61
19683050 2010
33
Skeletal muscle cell MHC I expression: implications for statin-induced myopathy. 54 61
19813190 2010
34
[McArdle disease revealed by exercise intolerance associated with severe rhabdomyolysis]. 61 54
19878922 2009
35
Muscle inactivation of mTOR causes metabolic and dystrophin defects leading to severe myopathy. 61 54
20008564 2009
36
Selenoprotein function and muscle disease. 54 61
19285112 2009
37
Valosin containing protein associated inclusion body myopathy: abnormal vacuolization, autophagy and cell fusion in myoblasts. 61 54
19828315 2009
38
Neuroleptic malignant syndrome or a statin drug reaction? A case report. 54 61
19952877 2009
39
The SLCO1B1*5 genetic variant is associated with statin-induced side effects. 54 61
19833260 2009
40
Muscle MRI in FHL1-linked reducing body myopathy. 61 54
19616434 2009
41
Impact of OATP transporters on pharmacokinetics. 61 54
19785645 2009
42
Novel DYSF mutations in Thai patients with distal myopathy. 61 54
19493611 2009
43
Hereditary inclusion-body myopathy: clues on pathogenesis and possible therapy. 61 54
19618441 2009
44
Pattern of skeletal muscle involvement in primary dysferlinopathies: a whole-body 3.0-T magnetic resonance imaging study. 61 54
19154541 2009
45
Consequences of mutations within the C terminus of the FHL1 gene. 61 54
19687455 2009
46
High aldolase with normal creatine kinase in serum predicts a myopathy with perimysial pathology. 61 54
19240048 2009
47
Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease. 61 54
19587455 2009
48
Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin. 61 54
19433360 2009
49
Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment. 61 54
19557870 2009
50
Functional analysis of a mutation in the SLCO1B1 gene (c.1628T>G) identified in a Japanese patient with pravastatin-induced myopathy. 61 54
19238167 2009

Variations for Myopathy

ClinVar genetic disease variations for Myopathy:

6 (show top 50) (show all 76)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MT-TP m.15990C>T SNV Pathogenic 9570 rs199474699 GRCh37: MT:15990-15990
GRCh38: MT:15990-15990
2 MT-TQ m.4369_4370insA Duplication Pathogenic 9614 rs199476140 GRCh37: MT:4365-4366
GRCh38: MT:4365-4366
3 TTN-AS1 , TTN NM_001267550.2(TTN):c.74567G>A (p.Trp24856Ter) SNV Pathogenic 374037 rs1057518851 GRCh37: 2:179436292-179436292
GRCh38: 2:178571565-178571565
4 DMD NM_004006.2(DMD):c.5699T>G (p.Leu1900Ter) SNV Pathogenic 374059 rs1057518866 GRCh37: X:32361291-32361291
GRCh38: X:32343174-32343174
5 GH-LCR , SCN4A NM_000334.4(SCN4A):c.3424C>T (p.Arg1142Ter) SNV Pathogenic 453303 rs912001256 GRCh37: 17:62024422-62024422
GRCh38: 17:63947062-63947062
6 DMD NM_000109.4(DMD):c.7556T>A (p.Leu2519Ter) SNV Pathogenic 689572 rs1603452200 GRCh37: X:31747828-31747828
GRCh38: X:31729711-31729711
7 COL6A3 NM_004369.3(COL6A3):c.6181C>T (p.Arg2061Ter) SNV Pathogenic 210752 rs797045479 GRCh37: 2:238269793-238269793
GRCh38: 2:237361150-237361150
8 RYR1 NM_000540.2(RYR1):c.1878_1882del (p.Pro626_Gly627insTer) Deletion Pathogenic 212098 rs797045931 GRCh37: 19:38948220-38948224
GRCh38: 19:38457580-38457584
9 RYR1 NM_000540.2(RYR1):c.8724C>A (p.Tyr2908Ter) SNV Pathogenic 212107 rs797045935 GRCh37: 19:38997500-38997500
GRCh38: 19:38506860-38506860
10 RYR1 NM_000540.2(RYR1):c.3381+1G>A SNV Pathogenic 212103 rs797045934 GRCh37: 19:38958453-38958453
GRCh38: 19:38467813-38467813
11 MTM1 NC_000023.11:g.150583230_150648535del Deletion Pathogenic 812933 GRCh37: X:149751687-149817005
GRCh38:
12 overlap with 6 genes GRCh37/hg19 17p12(chr17:14215739-15422582) copy number loss Pathogenic 523259 GRCh37: 17:14215739-15422582
GRCh38:
13 RYR1 NM_000540.2(RYR1):c.2505del (p.Pro836fs) Deletion Pathogenic 212099 rs797045932 GRCh37: 19:38951155-38951155
GRCh38: 19:38460515-38460515
14 TTN NM_001267550.2(TTN):c.23903_23904delinsA (p.Gly7968fs) Indel Pathogenic 212463 rs797046060 GRCh37: 2:179584315-179584316
GRCh38: 2:178719588-178719589
15 EMD NM_000117.2(EMD):c.184dup (p.Ser62fs) Duplication Pathogenic 523333 rs1557182317 GRCh37: X:153608150-153608151
GRCh38: X:154379790-154379791
16 TTN NM_001267550.2(TTN):c.42482_42485TTGT[1] (p.Cys14163fs) Microsatellite Pathogenic 212468 rs797046064 GRCh37: 2:179498737-179498740
GRCh38: 2:178634010-178634013
17 COL6A1 NM_001848.2(COL6A1):c.1003-2A>G SNV Pathogenic 210745 rs797045477 GRCh37: 21:47410685-47410685
GRCh38: 21:45990771-45990771
18 UNC45B NM_001267052.2(UNC45B):c.2255G>A (p.Arg752Gln) SNV Pathogenic 834072 GRCh37: 17:33504629-33504629
GRCh38: 17:35177610-35177610
19 TTN NM_001267550.2(TTN):c.29245C>T (p.Gln9749Ter) SNV Pathogenic 202356 rs746721983 GRCh37: 2:179571356-179571356
GRCh38: 2:178706629-178706629
20 DNM2 NM_001005360.2(DNM2):c.1102G>A (p.Glu368Lys) SNV Pathogenic 7282 rs121909092 GRCh37: 19:10904505-10904505
GRCh38: 19:10793829-10793829
21 ASTN2 , TRIM32 NM_001365068.1(ASTN2):c.2806+26570C>T SNV Pathogenic 7350 rs111033570 GRCh37: 9:119461480-119461480
GRCh38: 9:116699201-116699201
22 ANO5 NM_001142649.2(ANO5):c.188dup (p.Asn63fs) Duplication Pathogenic 2164 rs137854521 GRCh37: 11:22242646-22242647
GRCh38: 11:22221100-22221101
23 GH-LCR , SCN4A NM_000334.4(SCN4A):c.2024G>A (p.Arg675Gln) SNV Pathogenic 5919 rs121908557 GRCh37: 17:62034874-62034874
GRCh38: 17:63957514-63957514
24 CAPN3 NM_000070.3(CAPN3):c.550del (p.Thr184fs) Deletion Pathogenic 17621 rs80338800 GRCh37: 15:42680001-42680001
GRCh38: 15:42387803-42387803
25 GAA NM_000152.5(GAA):c.-32-13T>G SNV Pathogenic 4027 rs386834236 GRCh37: 17:78078341-78078341
GRCh38: 17:80104542-80104542
26 RAPSN NM_005055.5(RAPSN):c.490C>T (p.Arg164Cys) SNV Likely pathogenic 8054 rs104894294 GRCh37: 11:47469405-47469405
GRCh38: 11:47447853-47447853
27 ACADVL NM_000018.4(ACADVL):c.1358G>A (p.Arg453Gln) SNV Likely pathogenic 374123 rs138058572 GRCh37: 17:7127312-7127312
GRCh38: 17:7223993-7223993
28 COL6A2 NM_001849.3(COL6A2):c.2489G>A (p.Arg830Gln) SNV Likely pathogenic 210747 rs139552940 GRCh37: 21:47551895-47551895
GRCh38: 21:46131981-46131981
29 RAPSN NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) SNV Likely pathogenic 8046 rs104894299 GRCh37: 11:47469631-47469631
GRCh38: 11:47448079-47448079
30 RYR1 NM_001042723.2(RYR1):c.2654G>A (p.Arg885His) SNV Likely pathogenic 212100 rs370634440 GRCh37: 19:38954139-38954139
GRCh38: 19:38463499-38463499
31 ANO5 NM_213599.2(ANO5):c.1664G>T (p.Ser555Ile) SNV Likely pathogenic 286450 rs375014127 GRCh37: 11:22283708-22283708
GRCh38: 11:22262162-22262162
32 SFTPC NM_001317778.2(SFTPC):c.163C>T (p.Leu55Phe) SNV Likely pathogenic 598978 rs1563221666 GRCh37: 8:22020207-22020207
GRCh38: 8:22162694-22162694
33 ACADVL NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) SNV Likely pathogenic 203585 rs751995154 GRCh37: 17:7127330-7127330
GRCh38: 17:7224011-7224011
34 COL6A2 NM_001849.3(COL6A2):c.2633C>T (p.Ala878Val) SNV Likely pathogenic 210748 rs774521989 GRCh37: 21:47552039-47552039
GRCh38: 21:46132125-46132125
35 CLCN1 NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) SNV Likely pathogenic 17545 rs55960271 GRCh37: 7:143048771-143048771
GRCh38: 7:143351678-143351678
36 TTN-AS1 , TTN NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) SNV Likely pathogenic 202529 rs757082154 GRCh37: 2:179392218-179392218
GRCh38: 2:178527491-178527491
37 DYNC1H1 NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys) SNV Likely pathogenic 374099 rs879253979 GRCh37: 14:102446288-102446288
GRCh38: 14:101979951-101979951
38 MYH7 NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys) SNV Likely pathogenic 164324 rs2754158 GRCh37: 14:23894085-23894085
GRCh38: 14:23424876-23424876
39 TPM3 NM_152263.4(TPM3):c.734G>T (p.Arg245Ile) SNV Likely pathogenic 212412 rs797046047 GRCh37: 1:154142917-154142917
GRCh38: 1:154170441-154170441
40 BICD2 NM_001003800.2(BICD2):c.2239C>T (p.Arg747Cys) SNV Likely pathogenic 637067 rs1587667544 GRCh37: 9:95480098-95480098
GRCh38: 9:92717816-92717816
41 RYR1 NM_000540.2(RYR1):c.3235_3240dup (p.Ser1079_Tyr1080dup) Duplication Likely pathogenic 212102 rs797045933 GRCh37: 19:38958305-38958306
GRCh38: 19:38467665-38467666
42 TTN NM_001267550.2(TTN):c.35265dup (p.Pro11756fs) Duplication Likely pathogenic 523429 rs1198364572 GRCh37: 2:179535859-179535860
GRCh38: 2:178671132-178671133
43 CAPN3 NM_000070.3(CAPN3):c.632+5G>A SNV Likely pathogenic 523316 rs1555420508 GRCh37: 15:42680089-42680089
GRCh38: 15:42387891-42387891
44 DMD NM_004010.3(DMD):c.-193del Deletion Likely pathogenic 374010 rs1057518834 GRCh37: X:32867854-32867854
GRCh38: X:32849737-32849737
45 ANO5 NM_213599.2(ANO5):c.2029+2dup Duplication Likely pathogenic 374043 rs1057518855 GRCh37: 11:22291989-22291990
GRCh38: 11:22270443-22270444
46 RYR1 NM_000540.2(RYR1):c.1186G>A (p.Glu396Lys) SNV Likely pathogenic 374199 rs774919231 GRCh37: 19:38942467-38942467
GRCh38: 19:38451827-38451827
47 RYR1 NM_000540.2(RYR1):c.844C>T (p.Arg282Trp) SNV Likely pathogenic 374200 rs1057518970 GRCh37: 19:38939038-38939038
GRCh38: 19:38448398-38448398
48 DPM3 NM_153741.2(DPM3):c.137T>A (p.Leu46Gln) SNV Likely pathogenic 374109 rs1057518905 GRCh37: 1:155112580-155112580
GRCh38: 1:155140104-155140104
49 MYH7 , MHRT NM_000257.4(MYH7):c.4886T>C (p.Leu1629Pro) SNV Likely pathogenic 211558 rs797045730 GRCh37: 14:23885280-23885280
GRCh38: 14:23416071-23416071
50 COL6A2 NM_001849.3(COL6A2):c.892G>A (p.Gly298Arg) SNV Likely pathogenic 210750 rs797045478 GRCh37: 21:47535959-47535959
GRCh38: 21:46116045-46116045

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

Pathways related to Myopathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.19 TTN MYH7 EMD DMD

GO Terms for Myopathy

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

# Name GO ID Score Top Affiliating Genes
1 myofibril GO:0030016 9.5 MYH7 DMD CAPN3
2 sarcolemma GO:0042383 9.46 RYR1 DMD COL6A3 COL6A1
3 collagen type VI trimer GO:0005589 9.26 COL6A3 COL6A1
4 I band GO:0031674 9.13 TTN RYR1 MTM1
5 Z disc GO:0030018 9.02 TTN RYR1 MYH7 DMD CAPN3

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

# Name GO ID Score Top Affiliating Genes
1 cardiac muscle contraction GO:0060048 9.56 TTN MYH7 GAA DMD
2 muscle contraction GO:0006936 9.55 TTN SCN4A RYR1 MYH7 EMD
3 muscle filament sliding GO:0030049 9.54 TTN MYH7 DMD
4 striated muscle contraction GO:0006941 9.5 TTN MYH7 GAA
5 positive regulation of proteolysis GO:0045862 9.43 TRIM32 CAPN3
6 regulation of the force of heart contraction GO:0002026 9.4 MYH7 GAA
7 muscle organ development GO:0007517 9.35 UNC45B EMD DMD COL6A3 CAPN3
8 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 nitric-oxide synthase binding GO:0050998 8.96 DNM2 DMD
2 structural constituent of muscle GO:0008307 8.8 TTN DMD CAPN3

Sources for Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....