Myopathy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: MYP004 MIFTS: 67	Myopathy Categories: Muscle diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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Aliases & Classifications for Myopathy

MalaCards integrated aliases for Myopathy:

Name: Myopathy ¹¹ ⁵² ⁷⁵ ²⁸ ⁵³ ⁵ ¹⁴ ³⁶ ³⁸ ¹⁶ ⁷¹

Muscular Diseases ⁴³

Myopathies ¹⁴

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases Muscle diseases

See all MalaCards categories (disease lists)

ICD10: ³¹

Diseases of the nervous system

Diseases of myoneural junction and muscle

Disorders of myoneural junction and muscle in diseases classified elsewhere

Myopathy in other diseases classified elsewhere

Other myopathies

Myopathy due to other toxic agents

Myopathy, unspecified

Other specified myopathies

ICD11: ³³

Diseases of the nervous system

Nutritional or toxic disorders of the nervous system

Neurological disorders due to an excess of micro or macro nutrients

Myopathy due to hypercalcaemia

Neurological disorders due to nutrient deficiency

Myopathy due to nutritional deficiency

Neurological disorders due to toxicity

Myopathy due to toxicity

External Ids:

Disease Ontology ¹¹ DOID:423

ICD9CM ³⁴ 359.9

MeSH ⁴³ D009135

NCIt ⁴⁹ C101216

SNOMED-CT ⁶⁸ 155094005

ICD10 ³¹ G72.2 G72.8 G72.9 more

EFO ¹⁶ EFO_0004145

ICD11 ³³ 165764269 2120094266 2140847857

UMLS ⁷¹ C0026848

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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...

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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:

Sources

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

Sources

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

Sodium citrate

Approved, Investigational

Phase 4

68-04-2

23431961

Prednisolone phosphate

Approved, Vet_approved

Phase 4

302-25-0

Prednisolone acetate

Approved, Vet_approved

Phase 4

52-21-1

Prednisolone

Approved, Vet_approved

Phase 4

50-24-8

4894 5755

Methylprednisolone hemisuccinate

Approved

Phase 4

2921-57-5

1875

Methylprednisolone

Approved, Vet_approved

Phase 4

83-43-2

4159 6741

Sildenafil

Approved, Investigational

Phase 4

139755-83-2, 171599-83-0

5212 135398744

Clonidine

Approved

Phase 4

4205-91-8, 4205-90-7

2803 20179

Bezafibrate

Approved, Investigational

Phase 4

41859-67-0

39042

Carbamide peroxide

Approved

Phase 4

124-43-6

Prednisone

Approved, Vet_approved

Phase 4

53-03-2

5865

Mycophenolic acid

Approved, Investigational

Phase 4

24280-93-1

446541

Pravastatin

Approved

Phase 4

81093-37-0

54687

Donepezil

Approved

Phase 4

120014-06-4

3152

Methyltestosterone

Approved

Phase 4

58-18-4

6010

Testosterone undecanoate

Approved, Investigational

Phase 4

5949-44-0

21873174 65157

Testosterone enanthate

Approved

Phase 4

315-37-7

9416

Testosterone

Approved, Investigational

Phase 4

58-22-0

5408 6013

Citric acid

Approved, Nutraceutical, Vet_approved

Phase 4

77-92-9

311

(3-Carboxy-2-(R)-Hydroxy-Propyl)-Trimethyl-Ammonium

Experimental

Phase 4

461-06-3

Prednisolone hemisuccinate

Experimental

Phase 4

2920-86-7

4897

Antineoplastic Agents, Hormonal

Phase 4

Citrate

Phase 4

Neuroprotective Agents

Phase 4

Antiemetics

Phase 4

Methylprednisolone Acetate

Phase 4

584547

Phosphodiesterase Inhibitors

Phase 4

Phosphodiesterase 5 Inhibitors

Phase 4

Adrenergic Agonists

Phase 4

Adrenergic Agents

Phase 4

Adrenergic alpha-Agonists

Phase 4

Analgesics

Phase 4

Sympatholytics

Phase 4

Clofibric Acid

Phase 4

882-09-7

2797

Antibiotics, Antitubercular

Phase 4

Neurotransmitter Agents

Phase 4

Cholinergic Agents

Phase 4

Rosuvastatin Calcium

Phase 4

147098-20-2

Hormones

Phase 4

Hormone Antagonists

Phase 4

Nootropic Agents

Phase 4

Cholinesterase Inhibitors

Phase 4

Androgens

Phase 4

Testosterone 17 beta-cypionate

Phase 4

Risedronic acid

Approved, Investigational

Phase 3

105462-24-6

5245

Zoledronic acid

Approved

Phase 3

118072-93-8

68740

Denosumab

Approved

Phase 3

615258-40-7

Acetylcholine

Approved, Investigational

Phase 3

51-84-3

187

Deflazacort

Approved, Investigational

Phase 2, Phase 3

14484-47-0

26709 189821

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:

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

Sources

Genetic Tests for Myopathy

Genetic tests related to Myopathy:

#	Genetic test	Affiliating Genes
1	Myopathy ²⁸

Sources

Anatomical Context for Myopathy

Organs/tissues related to Myopathy:

MalaCards : Skeletal Muscle, Bone, Skin, Brain, Heart, Placenta, Lung

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

Sources

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	Dey R...Moraes CT	10996779	2000
2	A mitochondrial tRNA anticodon swap associated with a muscle disease. ⁶² ⁵	Moraes CT...DiMauro S	7689388	1993
3	Whole-genome sequencing of patients with rare diseases in a national health system. ⁵	Turro E...Ouwehand WH	32581362	2020
4	Epidermolysis bullosa simplex with muscular dystrophy. Review of the literature and a case report. ⁵	Kyrova J...Fajkusova L	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	Wu L...Liu J	19065518	2008
6	New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. ⁵	Vicart S...Fontaine B	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	Shirao K...Kobayashi M	20376488	2010
8	Role of thrombospondin 1 in macrophage inflammation in dysferlin myopathy. ⁵³ ⁶²	De Luna N...Illa I	20467328	2010
9	Calsequestrin and junctin immunoreactivity in hexagonally cross-linked tubular arrays myopathy. ⁵³ ⁶²	Di Blasi C...Mora M	20211563	2010
10	Approach to the patient who is intolerant of statin therapy. ⁵³ ⁶²	Eckel RH	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	Stober A...Krause S	20346669	2010
12	Myopathy and parkinsonism in phosphoglycerate kinase deficiency. ⁵³ ⁶²	Sotiriou E...DiMauro S	20151463	2010
13	Pathogenesis of thyroid-associated ophthalmopathy: does autoimmunity against calsequestrin and collagen XIII play a role? ⁵³ ⁶²	Lahooti H...Wall JR	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	Arbogast S...Ferreiro A	19769461	2010
15	The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy. ⁵³ ⁶²	Reilich P...Lochmuller H	20171888	2010
16	[Myosin storage myopathy: a rare subtype of protein aggregate myopathies]. ⁵³ ⁶²	Kiphuth IC...Schroder R	20376763	2010
17	MRI in lipid-lowering agent-associated myopathy: a retrospective review of 21 cases. ⁵³ ⁶²	Peters SA...Heyer CM	20308477	2010
18	Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1. ⁵³ ⁶²	Hung RM...Vajsar J	20303757	2010
19	Homozygotic intronic GAA mutation in three siblings with late-onset Pompe's disease. ⁵³ ⁶²	Grzesiuk AK...Marie SK	20464284	2010
20	Divergent molecular effects of desmin mutations on protein assembly in myofibrillar myopathy. ⁵³ ⁶²	Levin J...Lochmuller H	20448486	2010
21	A randomized study of alglucosidase alfa in late-onset Pompe's disease. ⁵³ ⁶²	van der Ploeg AT...Zivkovic SA	20393176	2010
22	Physiological significance of selective degradation of p62 by autophagy. ⁵³ ⁶²	Komatsu M...Ichimura Y	20153326	2010
23	Dysferlin overexpression in skeletal muscle produces a progressive myopathy. ⁵³ ⁶²	Glover LE...Brown RH	20373350	2010
24	Two novel mutations in thymidine kinase-2 cause early onset fatal encephalomyopathy and severe mtDNA depletion. ⁵³ ⁶²	Lesko N...Larsson NG	20083405	2010
25	Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene. ⁵³ ⁶²	Zhou H...Jungbluth H	20080402	2010
26	Pitavastatin: a new HMG-CoA reductase inhibitor. ⁵³ ⁶²	Wensel TM...Wensel B	20179258	2010
27	[Statins and muscular side-effects]. ⁵³ ⁶²	Brosteaux C...Rodondi N	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	Bovolenta M...Gualandi F	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	Vernengo L...Rodriguez MM	20133133	2010
30	Muscle toxicity with statins. ⁵³ ⁶²	Hedenmalm K...Dahl ML	20014178	2010
31	Skeletal muscle cell MHC I expression: implications for statin-induced myopathy. ⁵³ ⁶²	Singh P...Blaes F	19813190	2010
32	Muscle phosphorylase b kinase deficiency revisited. ⁵³ ⁶²	Echaniz-Laguna A...Dimauro S	20080404	2010
33	Riboflavin-responsive lipid-storage myopathy caused by ETFDH gene mutations. ⁵³ ⁶²	Wen B...Yan C	19758981	2010
34	Bezafibrate induces myotoxicity in human rhabdomyosarcoma cells via peroxisome proliferator-activated receptor alpha signaling. ⁵³ ⁶²	Zhao Y...Yang B	19683050	2010
35	Muscle inactivation of mTOR causes metabolic and dystrophin defects leading to severe myopathy. ⁵³ ⁶²	Risson V...Gangloff YG	20008564	2009
36	[McArdle disease revealed by exercise intolerance associated with severe rhabdomyolysis]. ⁵³ ⁶²	Amezyane T...Ohayon V	19878922	2009
37	Selenoprotein function and muscle disease. ⁵³ ⁶²	Lescure A...Allamand V	19285112	2009
38	Valosin containing protein associated inclusion body myopathy: abnormal vacuolization, autophagy and cell fusion in myoblasts. ⁵³ ⁶²	Vesa J...Kimonis VE	19828315	2009
39	Neuroleptic malignant syndrome or a statin drug reaction? A case report. ⁵³ ⁶²	Cooper JM...Jones AL	19952877	2009
40	Impact of OATP transporters on pharmacokinetics. ⁵³ ⁶²	Kalliokoski A...Niemi M	19785645	2009
41	The SLCO1B1*5 genetic variant is associated with statin-induced side effects. ⁵³ ⁶²	Voora D...Ginsburg GS	19833260	2009
42	Muscle MRI in FHL1-linked reducing body myopathy. ⁵³ ⁶²	Astrea G...Battini R	19616434	2009
43	Hereditary inclusion-body myopathy: clues on pathogenesis and possible therapy. ⁵³ ⁶²	Broccolini A...Mirabella M	19618441	2009
44	Novel DYSF mutations in Thai patients with distal myopathy. ⁵³ ⁶²	Liewluck T...Nishino I	19493611	2009
45	Pattern of skeletal muscle involvement in primary dysferlinopathies: a whole-body 3.0-T magnetic resonance imaging study. ⁵³ ⁶²	Kesper K...Wattjes MP	19154541	2009
46	Consequences of mutations within the C terminus of the FHL1 gene. ⁵³ ⁶²	Schoser B...Windpassinger C	19687455	2009
47	High aldolase with normal creatine kinase in serum predicts a myopathy with perimysial pathology. ⁵³ ⁶²	Nozaki K...Pestronk A	19240048	2009
48	Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease. ⁵³ ⁶²	Goldfarb LG...Dalakas MC	19587455	2009
49	Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin. ⁵³ ⁶²	Pinol-Ripoll G...Goldfarb LG	19433360	2009
50	Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatment. ⁵³ ⁶²	Arbogast S...Ferreiro A	19557870	2009

Sources

Genes for Myopathy

Genes related to Myopathy (20 elite genes):

(show top 50) (show all 415)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	RYR1	Ryanodine Receptor 1	Protein Coding	471.14	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	16940308 17190947 17033962 (more) 18171678 12208234 19513315 12629052 19056269 20080402 16163667 12565913 18253926 11524458 9497245 15336973 14999498 19303294 16958053 8406483 1668320 18313359 19541610 8825043 12805120
2	TTN	Titin	Protein Coding	457.85	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	10457388 18477606 14572168 (more) 17444505 17475230 16637922 8307566 14592894 15728284
3	CAPN3	Calpain 3	Protein Coding	457.2	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	11245721 10687099 18854869 (more) 11485017 15221789 17236769 19380703
4	MTM1	Myotubularin 1	Protein Coding	454.03	Pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)	32581362 14500759 17005396 (more) 9689104 9736772 12391329 9781038 15883335 18434328 10790201 14660569 15725586
5	DMD	Dystrophin	Protein Coding	453.42	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	8214011 10417791 8711982 (more) 1714059 8352860 1579251 2260862 2193159 1943889 2250176 1549142 7576492 17558114 2260849 11376626 1358314 2199849 17068785 14593637 8838554 7681651 1876220 14609186 11944998 8012195 8195802 8211039 1308019 2180286 15610607 11095710 10660328 9453095 12899872 11245214 9007342 7666833 7747013 7787263 16874449 9575811 9258254 8217214 16476707 8789805 7981587 9436425 20008564 14711882 7722508 11525885 14521733 16245342
6	ANO5	Anoctamin 5	Protein Coding	447.45	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
7	COL6A1	Collagen Type VI Alpha 1 Chain	Protein Coding	441.81	Pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	18761340 8817344
8	EMD	Emerin	Protein Coding	440.86	Pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	11716295
9	COL6A3	Collagen Type VI Alpha 3 Chain	Protein Coding	440.09	Pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	18761340
10	GAA	Alpha Glucosidase	Protein Coding	431.63	Pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	10658172 11268285 1895140 (more) 1915449 14567965 8415449 11286229 19046416 9466978 19252955 16898258 12398843 20393176 18975241 16901453 16640643 15659425 12443541 17213836 16702879 11590121 10840383 10409440 8577057 10972374 17008131 12766987 19167256 12507414 11945071 1410890 18704279 15287508 12409258 11387060 7603531 1668977 11591850 8552676 8525231 20464284 12065598 10430861
11	SCN4A	Sodium Voltage-Gated Channel Alpha Subunit 4	Protein Coding	431.18	Pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	15596759 19065518 14617673 (more) 8044656 10930446 19290024 10366610 10369308 16890191
12	TTN-AS1	TTN Antisense RNA 1	RNA Gene	425	Pathogenic ⁵ Likely pathogenic ⁵
13	DNM2	Dynamin 2	Protein Coding	424.1	Pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
14	UNC45B	Unc-45 Myosin Chaperone B	Protein Coding	421.52	Pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
15	TRIM32	Tripartite Motif Containing 32	Protein Coding	421.36	Pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
16	PLEC	Plectin	Protein Coding	407.34	Pathogenic ⁵ DISEASES inferred ¹⁴	28400893
17	MT-TQ	Mitochondrially Encoded TRNA-Gln (CAA/G)	RNA Gene	404.23	Pathogenic ⁵ DISEASES inferred ¹⁴	10996779
18	ASTN2	Astrotactin 2	Protein Coding	403.35	Pathogenic ⁵ DISEASES inferred ¹⁴
19	GH-LCR	Growth Hormone Locus Control Region	Functional Element	400	Pathogenic ⁵	15596759 19065518
20	MT-TP	Mitochondrially Encoded TRNA-Pro (CCN)	RNA Gene	400	Pathogenic ⁵	7689388
21	MYH7	Myosin Heavy Chain 7	Protein Coding	77.2	Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)	17336526 15699387 15605950 (more) 16684601 17372140 16103042 8483915 17383184 19336582 20376763 15322983 12767549 17190947 17434305 18555187 15034479
22	MYH2	Myosin Heavy Chain 2	Protein Coding	74.03	Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)	15741996 14991352 11889243
23	COL6A2	Collagen Type VI Alpha 2 Chain	Protein Coding	65.93	Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	18761340 20302629 8817344
24	TPM3	Tropomyosin 3	Protein Coding	57.58	Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
25	FKRP	Fukutin Related Protein	Protein Coding	55.69	Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	18593008 19900540
26	ACTA1	Actin Alpha 1, Skeletal Muscle	Protein Coding	54.17	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)	10508519 15221331 15072110 (more) 15226407 15468086 20303757 16501887 17705262 18976909 16288873 17885449 16948949 17387733 17190947
27	NEB	Nebulin	Protein Coding	52.79	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)	11882289 17157023 8307566
28	TPM2	Tropomyosin 2	Protein Coding	50.98	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)	19155175
29	CRYAB	Crystallin Alpha B	Protein Coding	49.21	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries Functions (show sections)	19181099 19050726 17888590 (more) 14681890 19007775 20171888
30	TNNT1	Troponin T1, Slow Skeletal Type	Protein Coding	48.99	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)	17603127
31	PUS1	Pseudouridine Synthase 1	Protein Coding	46.88	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)	15971356 17056637
32	ACADVL	Acyl-CoA Dehydrogenase Very Long Chain	Protein Coding	46	Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	19157942 15210884 9877038 (more) 15025677 11433098 17999356
33	DYSF	Dysferlin	Protein Coding	45.3	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	11739845 20467328 20373350 (more) 11234777 19084402 11245721 16116644 15535137 18396043 12734659 17024495 15827562 19493611 17825554 16087766 15318348 19154541 15469449 16483775 14749532 11198284 14678801 18294055
34	GNE	Glucosamine (UDP-N-Acetyl)-2-Epimerase/N-Acetylmannosamine Kinase	Protein Coding	45.03	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	12811782 12497639 15034479 (more) 19838336 17164266 15748884 18646567 12409274 15146476 15694140 12473780 19618441 17673919 18555875 20346669 17718674 16447769
35	SELENON	Selenoprotein N	Protein Coding	44.11	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	19067361 19769461 15792869 (more) 17123513 12700173 17204937 19557870 17951086 19285112 15122708 18025044
36	VCP	Valosin Containing Protein	Protein Coding	42.14	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	17763460 19208399 16822868 (more) 16199218 17626287 17224685 19364651 19828315 18260132 16247064 15034582
37	DES	Desmin	Protein Coding	41.61	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	14724127 17068785 9354004 (more) 10905661 8627346 12609507 11061256 7672786 9736733 10717012 9712432 8922062 8509778 17188893 16890305 14991347 14648196 12410397 7919971 8004844 1957650 20448486 1641160 18061454 20133133 15558188 19026658 11073539 8140891 17005401 19587455 9697706 8218579 19433360 19105189 18769253 17337483 14711882 12172916 11412718 11412147 17439987 11555983 11298680 9258254 17882015 17221859 15495235 14593638 10844369 16806931 7747013 1483042 18595698 12529857 12207939 8938698 8627347 7676812 7749334 19252433 16316944 15198127 9146065 8186686 19181099 18653096 17718384 15122708 12766977 11310634 11001821 10686494 9848719 9502648 9121497 10362540 9608560 17418574 17325244 15482963 10591032 10501549
38	LDB3	LIM Domain Binding 3	Protein Coding	41.49	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	19047374 17337483 19181098 (more) 19050726
39	CFL2	Cofilin 2	Protein Coding	41.42	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Gene name Summaries (show sections)
40	AMPD1	Adenosine Monophosphate Deaminase 1	Protein Coding	40.21	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	11102975 8486786 11408438 (more) 19258857 8355716
41	CLCN1	Chloride Voltage-Gated Channel 1	Protein Coding	40.01	Likely pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³	10720929
42	ITGA7	Integrin Subunit Alpha 7	Protein Coding	37.3	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	16476707 11361006
43	MYOT	Myotilin	Protein Coding	35.6	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	19458539 15752755 17005401 (more) 19047374 19418025 17337483 18769253 19181098 19105189 16380616 19027924 17784878 16801328 15111675 15367857 17056257 19590214 12899871 15947064 19050726 16076904 16793270 17068785
44	FLNC	Filamin C	Protein Coding	34.21	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	15929027 17337483 18769253 (more) 19181098 16501887 18055494 19050726
45	LMNA	Lamin A/C	Protein Coding	33.47	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	11515275 12673789 12920062 (more) 15817509 16288872 17005401 17136397 11833462 18339564 15773746 11561226 15367859 15622532 15965218 17117676 17325275 11897440 17467691 19283854
46	MATR3	Matrin 3	Protein Coding	32.17	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Gene name Summaries (show sections)
47	CAV3	Caveolin 3	Protein Coding	32.13	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	10417791 15564037 12666119 (more) 20211563 17629760 18930476
48	STIM1	Stromal Interaction Molecule 1	Protein Coding	32.02	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
49	LMOD3	Leiomodin 3	Protein Coding	31.94	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)
50	LAMP2	Lysosomal Associated Membrane Protein 2	Protein Coding	31.86	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	16565504 15907287 18376150 (more) 15889279 11427988 18282207 19057086 16217705 17541230 18004770 18393115

Sources

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

Sources

Expression for Myopathy

Search GEO for disease gene expression data for Myopathy.

Sources

Pathways for Myopathy

Pathways related to Myopathy according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Extracellular matrix organization ⁶⁶ Show member pathways Degradation of the extracellular matrix ⁶⁶	11.66	PLEC DMD COL6A3 COL6A1 CAPN3

Sources

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