MCID: MYP004
MIFTS: 67

Myopathy

Categories: Muscle diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Myopathy

Summaries for Myopathy

NINDS: 52 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 birthmuscular dystrophies: characterized by progressive weakness in voluntary muscles; sometimes evident at birthmitochondrial myopathies: caused by genetic abnormalities in mitochondria, cellular structures that control energy; include Kearns-Sayre syndrome, MELAS and MERRFglycogen 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 diseasesmyoglobinurias: caused by disorders in the metabolism of a fuel (myoglobin) necessary for muscle work; include McArdle, Tarui, and DiMauro diseasesdermatomyositis: an inflammatory myopathy of skin and musclemyositis ossificans: characterized by bone growing in muscle tissuefamilial periodic paralysis: characterized by episodes of weakness in the arms and legspolymyositis, inclusion body myositis, and related myopathies: inflammatory myopathies of skeletal muscleneuromyotonia: characterized by alternating episodes of twitching and stiffness; andstiff-man syndrome:  characterized by episodes of rigidity and reflex spasmscommon muscle cramps and stiffness, andtetany:  characterized by prolonged spasms of the arms and legs

MalaCards based summary: Myopathy, also known as muscular diseases, is related to bethlem myopathy 1 and batten-turner congenital myopathy, 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 Extracellular matrix organization. The drugs Sodium citrate and Prednisolone phosphate have been mentioned in the context of this disorder. Affiliated tissues include Placenta, skeletal muscle and bone, and related phenotypes are muscle and growth/size/body region

Disease Ontology: 11 A muscular disease in which the muscle fibers do not function resulting in muscular weakness.

Wikipedia: 75 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 2188)
# Related Disease Score Top Affiliating Genes
1 bethlem myopathy 1 34.1 TTN RYR1 MTM1 EMD DMD COL6A3
2 batten-turner congenital myopathy 34.0 TTN-AS1 TTN SCN4A RYR1 MTM1 GAA
3 myofibrillar myopathy 34.0 UNC45B TTN TRIM32 RYR1 PLEC EMD
4 centronuclear myopathy 34.0 TTN-AS1 TTN RYR1 MTM1 DNM2 DMD
5 myopathy, centronuclear, x-linked 33.9 TTN RYR1 MTM1 DNM2 DMD
6 myopathy, myofibrillar, 9, with early respiratory failure 33.8 TTN-AS1 TTN RYR1 MTM1 CAPN3 ANO5
7 rigid spine muscular dystrophy 1 33.7 TTN RYR1 GAA EMD DMD COL6A3
8 congenital fiber-type disproportion 33.6 TTN SCN4A RYR1 MTM1 EMD DNM2
9 myopathy, centronuclear, 1 33.6 TTN RYR1 MTM1 DNM2
10 myopathy, centronuclear, 2 33.6 TTN RYR1 MTM1 DNM2
11 myositis 33.5 TTN RYR1 DMD CAPN3
12 miyoshi muscular dystrophy 33.5 TTN GAA DMD CAPN3 ANO5
13 myopathy, myofibrillar, 1 33.5 TTN PLEC DMD CAPN3
14 central core disease of muscle 33.4 RYR1 MTM1 GAA DNM2
15 muscular dystrophy 33.3 TTN-AS1 TTN TRIM32 RYR1 PLEC GAA
16 myopathy, myofibrillar, 2 33.3 TTN PLEC DMD
17 multiminicore disease 33.3 TTN-AS1 TTN RYR1 MTM1 DNM2
18 myopathy, myofibrillar, 3 33.3 TTN PLEC DMD CAPN3
19 limb-girdle muscular dystrophy 33.3 TTN-AS1 TTN TRIM32 RYR1 PLEC MTM1
20 myopathy, myofibrillar, 5 33.2 TTN DMD CAPN3
21 minicore myopathy with external ophthalmoplegia 33.2 TTN RYR1
22 tibial muscular dystrophy 33.1 TTN-AS1 TTN DMD CAPN3 ANO5
23 ullrich congenital muscular dystrophy 1 33.1 RYR1 EMD DMD COL6A3 COL6A1 CAPN3
24 salih myopathy 33.1 TTN-AS1 TTN
25 muscular dystrophy, limb-girdle, autosomal recessive 8 33.0 TTN TRIM32 CAPN3 ASTN2
26 hyaline body myopathy 32.9 TTN RYR1
27 myopathy, distal, 4 32.9 CAPN3 ANO5
28 muscular disease 32.9 TTN RYR1 MTM1 EMD DMD CAPN3
29 neuromuscular disease 32.9 TTN-AS1 TTN SCN4A RYR1 PLEC MTM1
30 king-denborough syndrome 32.8 RYR1 MTM1
31 myopathy with extrapyramidal signs 32.8 DMD CAPN3
32 myopathy, myofibrillar, 4 32.8 TTN CAPN3
33 muscular dystrophy, limb-girdle, autosomal recessive 2 32.7 TTN TRIM32 PLEC GAA EMD DMD
34 emery-dreifuss muscular dystrophy 2, autosomal dominant 32.7 EMD DMD CAPN3
35 facioscapulohumeral muscular dystrophy 1 32.7 TTN GAA DMD CAPN3
36 tibial muscular dystrophy, tardive 32.7 TTN-AS1 TTN
37 collagen vi-related dystrophies 32.6 COL6A3 COL6A1
38 glycogen storage disease ii 32.6 GAA DMD CAPN3 ANO5
39 muscular dystrophy, becker type 32.5 TTN DMD CAPN3
40 miyoshi muscular dystrophy 3 32.5 CAPN3 ANO5
41 respiratory failure 32.3 TTN RYR1 GAA DMD
42 ptosis 32.3 TTN SCN4A RYR1 MTM1 DNM2 DMD
43 autosomal recessive limb-girdle muscular dystrophy type 2h 32.3 TRIM32 CAPN3 ANO5
44 dilated cardiomyopathy 32.3 UNC45B TTN-AS1 TTN RYR1 PLEC GAA
45 muscular dystrophy-dystroglycanopathy , type c, 5 32.2 TTN TRIM32 CAPN3 ANO5
46 muscular dystrophy, limb-girdle, autosomal recessive 7 32.2 TTN TRIM32 DMD CAPN3
47 muscular dystrophy, limb-girdle, autosomal recessive 6 32.2 TTN TRIM32 DMD CAPN3
48 muscular dystrophy, congenital, lmna-related 32.2 TTN-AS1 TTN RYR1 PLEC EMD DMD
49 autosomal recessive limb-girdle muscular dystrophy type 2c 32.2 DMD CAPN3 ANO5
50 cardiomyopathy, dilated, 1a 32.2 UNC45B TTN-AS1 TTN EMD

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 10.1 ANO5 CAPN3 COL6A1 COL6A3 DMD DNM2
2 growth/size/body region MP:0005378 9.97 ANO5 CAPN3 COL6A1 COL6A3 DMD DNM2
3 cardiovascular system MP:0005385 9.7 ANO5 CAPN3 COL6A3 DMD DNM2 EMD
4 behavior/neurological MP:0005386 9.47 ANO5 COL6A1 COL6A3 DMD DNM2 EMD

Drugs & Therapeutics for Myopathy

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

(show top 50) (show all 188)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium citrate Approved, Investigational Phase 4 68-04-2 23431961
2
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
3
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
4
Prednisolone Approved, Vet_approved Phase 4 50-24-8 4894 5755
5
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5 1875
6
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 4159 6741
7
Sildenafil Approved, Investigational Phase 4 139755-83-2, 171599-83-0 5212 135398744
8
Clonidine Approved Phase 4 4205-91-8, 4205-90-7 2803 20179
9
Bezafibrate Approved, Investigational Phase 4 41859-67-0 39042
10
Carbamide peroxide Approved Phase 4 124-43-6
11
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
12
Mycophenolic acid Approved, Investigational Phase 4 24280-93-1 446541
13
Pravastatin Approved Phase 4 81093-37-0 54687
14
Donepezil Approved Phase 4 120014-06-4 3152
15
Methyltestosterone Approved Phase 4 58-18-4 6010
16
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0 21873174 65157
17
Testosterone enanthate Approved Phase 4 315-37-7 9416
18
Testosterone Approved, Investigational Phase 4 58-22-0 5408 6013
19
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
20
(3-Carboxy-2-(R)-Hydroxy-Propyl)-Trimethyl-Ammonium Experimental Phase 4 461-06-3
21
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7 4897
22 Antineoplastic Agents, Hormonal Phase 4
23 Citrate Phase 4
24 Neuroprotective Agents Phase 4
25 Antiemetics Phase 4
26
Methylprednisolone Acetate Phase 4 584547
27 Phosphodiesterase Inhibitors Phase 4
28 Phosphodiesterase 5 Inhibitors Phase 4
29 Adrenergic Agonists Phase 4
30 Adrenergic Agents Phase 4
31 Adrenergic alpha-Agonists Phase 4
32 Analgesics Phase 4
33 Sympatholytics Phase 4
34
Clofibric Acid Phase 4 882-09-7 2797
35 Antibiotics, Antitubercular Phase 4
36 Neurotransmitter Agents Phase 4
37 Cholinergic Agents Phase 4
38
Rosuvastatin Calcium Phase 4 147098-20-2
39 Hormones Phase 4
40 Hormone Antagonists Phase 4
41 Nootropic Agents Phase 4
42 Cholinesterase Inhibitors Phase 4
43 Androgens Phase 4
44 Testosterone 17 beta-cypionate Phase 4
45
Risedronic acid Approved, Investigational Phase 3 105462-24-6 5245
46
Zoledronic acid Approved Phase 3 118072-93-8 68740
47
Denosumab Approved Phase 3 615258-40-7
48
Acetylcholine Approved, Investigational Phase 3 51-84-3 187
49
Deflazacort Approved, Investigational Phase 2, Phase 3 14484-47-0 26709 189821
50
Infliximab Approved Phase 2, Phase 3 170277-31-3

Interventional clinical trials:

(show top 50) (show all 316)
# 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 A Comparative Study of Strategies for Management of Duchenne Myopathy in Assiut University Children Hospital Unknown status NCT03633565 Phase 4 Sildenafil (Phosphodiesterase inhibitors);Prednisolone (Steroids)
3 Near Infrared Spectroscopy to Diagnose Statin-Associated Muscle Symptoms Unknown status NCT03653663 Phase 4 Simvastatin 20 mg;Placebo Oral Tablet
4 Clonidine and the Skeletal Myopathy of Heart Failure Completed NCT00858845 Phase 4 Clonidine Patch
5 The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM) Completed NCT01527318 Phase 4 Fibrate treatment
6 Association Between Systemic Exposure of Atorvastatin and Metabolites and Atorvastatin-induced Myotoxicity Completed NCT00120055 Phase 4 Atorvastatin (Lipitor)
7 Early Goal-Directed Nutrition in ICU Patients - EAT-ICU Trial Completed NCT01372176 Phase 4
8 Investigations on Differences in Atorvastatin Metabolite Ratios as a Diagnostic Tool in Detecting Atorvastatin Induced Myotoxicity Completed NCT00199745 Phase 4 atorvastatin
9 Clinical Study of MMF in Treatment of IIM-ILD and Its Effect on Peripheral Blood Treg Cells Recruiting NCT05129410 Phase 4 Mycophenolate Mofetil
10 Quality of Life and Metabolic Alterations in Patients With Statin-Associated Myopathy Terminated NCT00850460 Phase 4 Statins;Placebo
11 Treatment of Delirium in the Elderly With Donepezil: a Double-blind, Randomized, Placebo-controlled Clinical Trial Terminated NCT01633593 Phase 4 Donepezil
12 Testosterone Replacement for Older Men With Sarcopenia Terminated NCT00240981 Phase 4 Topical testosterone gel 1% (active formulation);Topical gel (placebo formulation)
13 Double Blind, Prospective Randomized, Crossover Study of Patients With Muscle Complaints on Statin Therapy Withdrawn NCT00127335 Phase 4 cellulose placebo vs. atorvastatin
14 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
15 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
16 Efficacy of Denosumab and Zoledronic Acid in the Treatment of Idiopathic Inflammatory Myopathies Related Reduced Bone Mineral Density: a Prospective Controlled Trial Unknown status NCT04034199 Phase 3 Denosumab;Zoledronic Acid
17 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
18 Efficacy Confirmation Study of NPC-09 Completed NCT04671472 Phase 3 NPC-09;NPC-09 placebo
19 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)
20 Effects of Growth Hormone on Corticoid Myopathy in Children With Chronic Disease: Effects on Muscle Mass and Strength Completed NCT00813189 Phase 3
21 Deflazacort in Dysferlinopathies (LGMD2B/MM) - a Double Blind, Placebo-controlled Clinical Study Completed NCT00527228 Phase 2, Phase 3 deflazacort;placebo
22 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
23 A Phase 3 Efficacy and Safety Study of Ataluren in Patients With Nonsense Mutation Dystrophinopathy Completed NCT01826487 Phase 3 Ataluren;Placebo
24 Investigation of Kritech Efficacy on Subjects Having Functional Discomfort Associated to Joints and Muscles Disorders Completed NCT02318875 Phase 3
25 An Open Trial With TNF Blockade With Infliximab (Remicade®), in Patients With Chronic Inflammatory Myopathies Completed NCT00443222 Phase 2, Phase 3 Infliximab
26 Anakinra in Patients With Refractory Idiopathic Inflammatory Myopathies Completed NCT01165008 Phase 2, Phase 3 Anakinra
27 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 Recruiting NCT04641962 Phase 2, Phase 3 Bocidelpar;Placebo
28 A Phase 2/3, Randomized, Double-Blinded, Placebo-Controlled, Parallel-Group, 2-Arm, Multicenter, Operationally Seamless Study to Evaluate the Efficacy, Safety, Tolerability, Pharmacodynamics, Pharmacokinetics, and Immunogenicity of Efgartigimod PH20 SC in Participants Aged 18 Years and Older With Active Idiopathic Inflammatory Myopathy Recruiting NCT05523167 Phase 2, Phase 3
29 An Open-label, Multi-centre Study to Evaluate the Long-term Safety and Tolerability of REN001 in Subjects With Primary Mitochondrial Myopathy (PMM) Recruiting NCT05267574 Phase 2, Phase 3 REN001
30 A Phase 3, Randomized, Double-Blind, Placebo-Controlled Trial Evaluating the Efficacy and Safety of Human Allogeneic Cardiosphere-Derived Cells for the Treatment of Duchenne Muscular Dystrophy Recruiting NCT05126758 Phase 3 Placebo
31 A Phase 3 Randomized, Double-Blind, Parallel-Group, Placebo-Controlled Trial to Evaluate the Efficacy and Safety of Daily Subcutaneous Injections of Elamipretide in Subjects With Primary Mitochondrial Disease Resulting From Pathogenic Nuclear DNA Mutations (nPMD) NuPower Recruiting NCT05162768 Phase 3 Elamipretide;Placebo
32 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
33 An Open-label Study of Sodium Thiosulfate for Treatment of Calcinosis Associated With Juvenile and Adult Dermatomyositis Active, not recruiting NCT03267277 Phase 2, Phase 3 Sodium Thiosulfate
34 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
35 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
36 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) Terminated NCT02971683 Phase 3 Abatacept subcutaneous;Placebo
37 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
38 A Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Terminated NCT02090959 Phase 3 Ataluren
39 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
40 Treatment of TNNT1-Myopathy With L-Tyrosine. A Double-blind, Placebo-controlled Crossover Trial. Unknown status NCT02035501 Phase 2 L-Tyrosine;Placebo
41 Exercise Training and Deconditions: Implications for Therapy in Mitochondrial Myopathy Unknown status NCT00457314 Phase 2
42 A Randomized Controlled Trial to Evaluate the Efficacy and Safety of Low-dose Interleukin-2 in Combination With Standard Therapy Compared to Standard Therapy Alone in Adults With Active Idiopathic Inflammatory Myopathy Unknown status NCT04237987 Phase 2 Interleukin-2;ciclosporin and corticosteroid
43 Low-dose Interleukin-2 Treatment on Idiopathic Inflammatory Myopathy Unknown status NCT04062019 Phase 2 Interleukin-2
44 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
45 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
46 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
47 An Open-Label Phase 2 Study of ManNAc in Subjects With GNE Myopathy Completed NCT02346461 Phase 2 ManNAc
48 Rituximab Therapy in Refractory Adult and Juvenile Idiopathic Inflammatory Myopathy (IIM) Completed NCT00106184 Phase 2 Rituximab;Placebo
49 Antioxidant Therapy in RYR1-Related Congenital Myopathy Completed NCT02362425 Phase 1, Phase 2 N-acetylcysteine;Placebo
50 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

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: 19478280 18154467

Cochrane evidence based reviews: muscular diseases

Genetic Tests for Myopathy

Genetic tests related to Myopathy:

# Genetic test Affiliating Genes
1 Myopathy 28

Anatomical Context for Myopathy

Organs/tissues related to Myopathy:

MalaCards : Skeletal Muscle, Bone, Skin, Brain, Heart, Placenta, Lung
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 27618)
# Title Authors PMID Year
1
A novel myopathy-associated mitochondrial DNA mutation altering the conserved size of the tRNA(Gln) anticodon loop. 62 5
10996779 2000
2
A mitochondrial tRNA anticodon swap associated with a muscle disease. 62 5
7689388 1993
3
Whole-genome sequencing of patients with rare diseases in a national health system. 5
32581362 2020
4
Epidermolysis bullosa simplex with muscular dystrophy. Review of the literature and a case report. 5
28400893 2016
5
[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]. 5
19065518 2008
6
New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. 5
15596759 2004
7
Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency. 53 62
20376488 2010
8
Role of thrombospondin 1 in macrophage inflammation in dysferlin myopathy. 53 62
20467328 2010
9
Calsequestrin and junctin immunoreactivity in hexagonally cross-linked tubular arrays myopathy. 53 62
20211563 2010
10
Approach to the patient who is intolerant of statin therapy. 53 62
20444930 2010
11
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. 53 62
20346669 2010
12
Myopathy and parkinsonism in phosphoglycerate kinase deficiency. 53 62
20151463 2010
13
Pathogenesis of thyroid-associated ophthalmopathy: does autoimmunity against calsequestrin and collagen XIII play a role? 53 62
20505833 2010
14
Selenoproteins and protection against oxidative stress: selenoprotein N as a novel player at the crossroads of redox signaling and calcium homeostasis. 53 62
19769461 2010
15
The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy. 53 62
20171888 2010
16
[Myosin storage myopathy: a rare subtype of protein aggregate myopathies]. 53 62
20376763 2010
17
MRI in lipid-lowering agent-associated myopathy: a retrospective review of 21 cases. 53 62
20308477 2010
18
Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1. 53 62
20303757 2010
19
Homozygotic intronic GAA mutation in three siblings with late-onset Pompe's disease. 53 62
20464284 2010
20
Divergent molecular effects of desmin mutations on protein assembly in myofibrillar myopathy. 53 62
20448486 2010
21
A randomized study of alglucosidase alfa in late-onset Pompe's disease. 53 62
20393176 2010
22
Physiological significance of selective degradation of p62 by autophagy. 53 62
20153326 2010
23
Dysferlin overexpression in skeletal muscle produces a progressive myopathy. 53 62
20373350 2010
24
Two novel mutations in thymidine kinase-2 cause early onset fatal encephalomyopathy and severe mtDNA depletion. 53 62
20083405 2010
25
Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene. 53 62
20080402 2010
26
Pitavastatin: a new HMG-CoA reductase inhibitor. 53 62
20179258 2010
27
[Statins and muscular side-effects]. 53 62
20373698 2010
28
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. 53 62
20302629 2010
29
Desmin myopathy with severe cardiomyopathy in a Uruguayan family due to a codon deletion in a new location within the desmin 1A rod domain. 53 62
20133133 2010
30
Muscle toxicity with statins. 53 62
20014178 2010
31
Skeletal muscle cell MHC I expression: implications for statin-induced myopathy. 53 62
19813190 2010
32
Muscle phosphorylase b kinase deficiency revisited. 53 62
20080404 2010
33
Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations. 53 62
19758981 2010
34
Bezafibrate induces myotoxicity in human rhabdomyosarcoma cells via peroxisome proliferator-activated receptor alpha signaling. 53 62
19683050 2010
35
Muscle inactivation of mTOR causes metabolic and dystrophin defects leading to severe myopathy. 53 62
20008564 2009
36
[McArdle disease revealed by exercise intolerance associated with severe rhabdomyolysis]. 53 62
19878922 2009
37
Selenoprotein function and muscle disease. 53 62
19285112 2009
38
Valosin containing protein associated inclusion body myopathy: abnormal vacuolization, autophagy and cell fusion in myoblasts. 53 62
19828315 2009
39
Neuroleptic malignant syndrome or a statin drug reaction? A case report. 53 62
19952877 2009
40
Impact of OATP transporters on pharmacokinetics. 53 62
19785645 2009
41
The SLCO1B1*5 genetic variant is associated with statin-induced side effects. 53 62
19833260 2009
42
Muscle MRI in FHL1-linked reducing body myopathy. 53 62
19616434 2009
43
Hereditary inclusion-body myopathy: clues on pathogenesis and possible therapy. 53 62
19618441 2009
44
Novel DYSF mutations in Thai patients with distal myopathy. 53 62
19493611 2009
45
Pattern of skeletal muscle involvement in primary dysferlinopathies: a whole-body 3.0-T magnetic resonance imaging study. 53 62
19154541 2009
46
Consequences of mutations within the C terminus of the FHL1 gene. 53 62
19687455 2009
47
High aldolase with normal creatine kinase in serum predicts a myopathy with perimysial pathology. 53 62
19240048 2009
48
Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease. 53 62
19587455 2009
49
Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin. 53 62
19433360 2009
50
Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment. 53 62
19557870 2009

Variations for Myopathy

ClinVar genetic disease variations for Myopathy:

5 (show top 50) (show all 86)
# 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 DUP Pathogenic
9614 rs199476140 GRCh37: MT:4365-4366
GRCh38: MT:4365-4366
3 ASTN2, TRIM32 NM_012210.4(TRIM32):c.1459G>A (p.Asp487Asn) SNV Pathogenic
7350 rs111033570 GRCh37: 9:119461480-119461480
GRCh38: 9:116699201-116699201
4 DMD NM_004006.3(DMD):c.5699T>G (p.Leu1900Ter) SNV Pathogenic
374059 rs1057518866 GRCh37: X:32361291-32361291
GRCh38: X:32343174-32343174
5 EMD NM_000117.3(EMD):c.184dup (p.Ser62fs) DUP Pathogenic
523333 rs1557182317 GRCh37: X:153608150-153608151
GRCh38: X:154379790-154379791
6 overlap with 6 genes GRCh37/hg19 17p12(chr17:14215739-15422582) CN LOSS Pathogenic
523259 GRCh37: 17:14215739-15422582
GRCh38:
7 DMD NM_004006.3(DMD):c.7580T>A (p.Leu2527Ter) SNV Pathogenic
689572 rs1603452200 GRCh37: X:31747828-31747828
GRCh38: X:31729711-31729711
8 UNC45B NM_001267052.2(UNC45B):c.2255G>A (p.Arg752Gln) SNV Pathogenic
834072 rs139715157 GRCh37: 17:33504629-33504629
GRCh38: 17:35177610-35177610
9 MTM1 NC_000023.11:g.150583230_150648535del DEL Pathogenic
812933 GRCh37: X:149751687-149817005
GRCh38:
10 COL6A3 NM_004369.4(COL6A3):c.6181C>T (p.Arg2061Ter) SNV Pathogenic
210752 rs797045479 GRCh37: 2:238269793-238269793
GRCh38: 2:237361150-237361150
11 DNM2 NM_001005361.3(DNM2):c.1102G>A (p.Glu368Lys) SNV Pathogenic
7282 rs121909092 GRCh37: 19:10904505-10904505
GRCh38: 19:10793829-10793829
12 GH-LCR, SCN4A NM_000334.4(SCN4A):c.3424C>T (p.Arg1142Ter) SNV Pathogenic
453303 rs912001256 GRCh37: 17:62024422-62024422
GRCh38: 17:63947062-63947062
13 COL6A1 NM_001848.3(COL6A1):c.1003-2A>G SNV Pathogenic
210745 rs797045477 GRCh37: 21:47410685-47410685
GRCh38: 21:45990771-45990771
14 PLEC NM_201384.3(PLEC):c.6970C>T (p.Arg2324Ter) SNV Pathogenic
1320041 GRCh37: 8:144997127-144997127
GRCh38: 8:143922959-143922959
15 RYR1 NM_000540.3(RYR1):c.1878_1882del (p.Pro626_Gly627insTer) DEL Pathogenic
212098 rs797045931 GRCh37: 19:38948220-38948224
GRCh38: 19:38457580-38457584
16 TTN NM_001267550.2(TTN):c.23903_23904delinsA (p.Gly7968fs) INDEL Pathogenic
212463 rs797046060 GRCh37: 2:179584315-179584316
GRCh38: 2:178719588-178719589
17 RYR1 NM_000540.3(RYR1):c.2505del (p.Pro836fs) DEL Pathogenic
212099 rs797045932 GRCh37: 19:38951155-38951155
GRCh38: 19:38460515-38460515
18 RYR1 NM_000540.3(RYR1):c.8724C>A (p.Tyr2908Ter) SNV Pathogenic
212107 rs797045935 GRCh37: 19:38997500-38997500
GRCh38: 19:38506860-38506860
19 RYR1 NM_000540.3(RYR1):c.3381+1G>A SNV Pathogenic
212103 rs797045934 GRCh37: 19:38958453-38958453
GRCh38: 19:38467813-38467813
20 TTN NM_001267550.2(TTN):c.29245C>T (p.Gln9749Ter) SNV Pathogenic
202356 rs746721983 GRCh37: 2:179571356-179571356
GRCh38: 2:178706629-178706629
21 TTN-AS1, TTN NM_001267550.2(TTN):c.74567G>A (p.Trp24856Ter) SNV Pathogenic
374037 rs1057518851 GRCh37: 2:179436292-179436292
GRCh38: 2:178571565-178571565
22 TTN NM_001267550.2(TTN):c.42486_42489del (p.Cys14163fs) MICROSAT Pathogenic
212468 rs797046064 GRCh37: 2:179498737-179498740
GRCh38: 2:178634010-178634013
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 GAA NM_000152.5(GAA):c.-32-13T>G SNV Pathogenic
4027 rs386834236 GRCh37: 17:78078341-78078341
GRCh38: 17:80104542-80104542
25 CAPN3 NM_000070.3(CAPN3):c.550del (p.Thr184fs) DEL Pathogenic
17621 rs80338800 GRCh37: 15:42680001-42680001
GRCh38: 15:42387803-42387803
26 ANO5 NM_213599.3(ANO5):c.191dup (p.Asn64fs) DUP Pathogenic
2164 rs137854521 GRCh37: 11:22242646-22242647
GRCh38: 11:22221100-22221101
27 COL6A2 NM_001849.4(COL6A2):c.2489G>A (p.Arg830Gln) SNV Likely Pathogenic
210747 rs139552940 GRCh37: 21:47551895-47551895
GRCh38: 21:46131981-46131981
28 RAPSN NM_005055.5(RAPSN):c.490C>T (p.Arg164Cys) SNV Likely Pathogenic
8054 rs104894294 GRCh37: 11:47469405-47469405
GRCh38: 11:47447853-47447853
29 RYR1 NM_000540.3(RYR1):c.844C>T (p.Arg282Trp) SNV Likely Pathogenic
374200 rs1057518970 GRCh37: 19:38939038-38939038
GRCh38: 19:38448398-38448398
30 FKRP NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) SNV Likely Pathogenic
4221 rs28937900 GRCh37: 19:47259533-47259533
GRCh38: 19:46756276-46756276
31 RYR1 NM_000540.3(RYR1):c.2654G>A (p.Arg885His) SNV Likely Pathogenic
212100 rs370634440 GRCh37: 19:38954139-38954139
GRCh38: 19:38463499-38463499
32 RAPSN NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) SNV Likely Pathogenic
8046 rs104894299 GRCh37: 11:47469631-47469631
GRCh38: 11:47448079-47448079
33 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
34 ACADVL NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) SNV Likely Pathogenic
203585 rs751995154 GRCh37: 17:7127330-7127330
GRCh38: 17:7224011-7224011
35 MYH7 NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys) SNV Likely Pathogenic
164324 rs2754158 GRCh37: 14:23894085-23894085
GRCh38: 14:23424876-23424876
36 RYR1 NM_000540.3(RYR1):c.1186G>A (p.Glu396Lys) SNV Likely Pathogenic
374199 rs774919231 GRCh37: 19:38942467-38942467
GRCh38: 19:38451827-38451827
37 RYR1 NM_000540.3(RYR1):c.8463G>A (p.Trp2821Ter) SNV Likely Pathogenic
373926 rs1057518773 GRCh37: 19:38996508-38996508
GRCh38: 19:38505868-38505868
38 TTN NM_001267550.2(TTN):c.35265dup (p.Pro11756fs) DUP Likely Pathogenic
523429 rs1198364572 GRCh37: 2:179535859-179535860
GRCh38: 2:178671132-178671133
39 RYR1 NM_000540.3(RYR1):c.3235_3240dup (p.Ser1079_Tyr1080dup) DUP Likely Pathogenic
212102 rs797045933 GRCh37: 19:38958305-38958306
GRCh38: 19:38467665-38467666
40 MYH7, MHRT NM_000257.4(MYH7):c.4886T>C (p.Leu1629Pro) SNV Likely Pathogenic
211558 rs797045730 GRCh37: 14:23885280-23885280
GRCh38: 14:23416071-23416071
41 SFTPC NM_001317778.2(SFTPC):c.163C>T (p.Leu55Phe) SNV Likely Pathogenic
598978 rs1563221666 GRCh37: 8:22020207-22020207
GRCh38: 8:22162694-22162694
42 ANO5 NM_213599.3(ANO5):c.1664G>T (p.Ser555Ile) SNV Likely Pathogenic
286450 rs375014127 GRCh37: 11:22283708-22283708
GRCh38: 11:22262162-22262162
43 CLCN1 NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) SNV Likely Pathogenic
17545 rs55960271 GRCh37: 7:143048771-143048771
GRCh38: 7:143351678-143351678
44 COL6A2 NM_001849.4(COL6A2):c.2633C>T (p.Ala878Val) SNV Likely Pathogenic
210748 rs774521989 GRCh37: 21:47552039-47552039
GRCh38: 21:46132125-46132125
45 DYNC1H1 NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys) SNV Likely Pathogenic
374099 rs879253979 GRCh37: 14:102446288-102446288
GRCh38: 14:101979951-101979951
46 ACADVL NM_000018.4(ACADVL):c.1358G>A (p.Arg453Gln) SNV Likely Pathogenic
374123 rs138058572 GRCh37: 17:7127312-7127312
GRCh38: 17:7223993-7223993
47 TPM3 NM_152263.4(TPM3):c.734G>T (p.Arg245Ile) SNV Likely Pathogenic
212412 rs797046047 GRCh37: 1:154142917-154142917
GRCh38: 1:154170441-154170441
48 COL6A2 NM_001849.4(COL6A2):c.892G>A (p.Gly298Arg) SNV Likely Pathogenic
210750 rs797045478 GRCh37: 21:47535959-47535959
GRCh38: 21:46116045-46116045
49 BICD2 NM_001003800.2(BICD2):c.2239C>T (p.Arg747Cys) SNV Likely Pathogenic
637067 rs1587667544 GRCh37: 9:95480098-95480098
GRCh38: 9:92717816-92717816
50 MYH2, MYHAS NM_017534.6(MYH2):c.5510dup (p.Arg1838fs) DUP Likely Pathogenic
981182 rs1297291974 GRCh37: 17:10426691-10426692
GRCh38: 17:10523374-10523375

Copy number variations for Myopathy from CNVD:

6
# 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
11.66 PLEC DMD COL6A3 COL6A1 CAPN3

GO Terms for Myopathy

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

# Name GO ID Score Top Affiliating Genes
1 I band GO:0031674 9.73 TTN RYR1 MTM1
2 sarcolemma GO:0042383 9.65 RYR1 PLEC DMD COL6A3 COL6A1
3 myofibril GO:0030016 9.62 PLEC DMD CAPN3
4 collagen type VI trimer GO:0005589 9.46 COL6A3 COL6A1
5 Z disc GO:0030018 9.4 UNC45B TTN RYR1 PLEC 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 9.8 TTN GAA DMD
2 muscle contraction GO:0006936 9.76 TTN SCN4A RYR1 EMD
3 sarcomere organization GO:0045214 9.73 TTN PLEC CAPN3
4 muscle organ development GO:0007517 9.65 UNC45B EMD DMD COL6A3 CAPN3
5 muscle cell cellular homeostasis GO:0046716 9.32 TRIM32 MTM1 GAA DMD CAPN3

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

# Name GO ID Score Top Affiliating Genes
1 protein self-association GO:0043621 9.63 TTN TRIM32 PLEC
2 dystroglycan binding GO:0002162 9.26 PLEC DMD
3 structural constituent of muscle GO:0008307 9.23 TTN PLEC DMD CAPN3

Sources for Myopathy

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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