MCID: MSC190
MIFTS: 52

Muscular Disease

Categories: Muscle diseases, Neuronal diseases

Aliases & Classifications for Muscular Disease

MalaCards integrated aliases for Muscular Disease:

Name: Muscular Disease 12 15 17
Muscular Diseases 29 6

Classifications:



External Ids:

Disease Ontology 12 DOID:0080000

Summaries for Muscular Disease

Disease Ontology : 12 A musculoskeletal system disease that affects the muscles.

MalaCards based summary : Muscular Disease, also known as muscular diseases, is related to myopathy and muscular dystrophy, and has symptoms including muscle weakness, myoclonus and myalgia. An important gene associated with Muscular Disease is DMD (Dystrophin). The drugs Bezafibrate and Simvastatin have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, testes and brain, and related phenotypes are behavior/neurological and cellular

Wikipedia : 74 Myopathy is a disease of the muscle in which the muscle fibers do not function properly. This results in... more...

Related Diseases for Muscular Disease

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

(show top 50) (show all 174)
# Related Disease Score Top Affiliating Genes
1 myopathy 35.1 TTN TRIM32 SCN4A RYR1 GAA EMD
2 muscular dystrophy 33.2 TTN TRIM32 SCN4A RYR1 POMGNT2 GAA
3 neuromuscular disease 32.6 TTN SERPINA3 SCN4A RYR1 H2AC18 GAA
4 muscular dystrophy, congenital, lmna-related 32.0 TTN RYR1 POMGNT2 EMD DMD COL6A3
5 myositis 31.8 TTN SERPINA3 RYR1 DMD
6 myopathy, congenital 31.5 TTN RYR1 GAA DNM2 DMD
7 muscular dystrophy, becker type 31.3 TTN EMD DMD
8 myotonia 31.3 SCN4A CLCN1
9 malignant hyperthermia 31.2 SCN4A RYR1 DMD
10 limb-girdle muscular dystrophy 31.2 TTN TRIM32 POMGNT2 ANO5
11 miyoshi muscular dystrophy 31.1 TTN GAA DMD ANO5
12 facioscapulohumeral muscular dystrophy 1 31.1 TTN H2AC18 GAA DMD
13 muscular dystrophy-dystroglycanopathy , type a, 4 31.0 POMGNT2 DMD B3GNT2
14 hypokalemic periodic paralysis, type 1 30.9 SCN4A RYR1 CLCN1
15 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 30.7 SCN4A ACADVL
16 atrophic muscular disease 12.1
17 muscle tissue disease 11.8 TTN SERPINA3 RYR1 H2AC18 EMD DMD
18 congenital myasthenic syndrome 11.4 TTN SERPINA3 SCN4A RYR1 EMD DNM2
19 peripheral nervous system disease 11.4 TTN SERPINA3 RYR1 H2AC18 DNM2 DMD
20 respiratory failure 11.4 TTN SERPINA3 RYR1 H2AC18 GAA DMD
21 rigid spine muscular dystrophy 1 11.4 TTN RYR1 GAA EMD DMD COL6A1
22 bethlem myopathy 1 11.4 RYR1 DMD CRYAA COL6A3 COL6A1 ANO5
23 congenital fiber-type disproportion 11.4 TTN RYR1 EMD DNM2 DMD COL6A3
24 myofibrillar myopathy 11.4 TTN SERPINA3 DNM2 DMD CRYAA ANO5
25 walker-warburg syndrome 11.3 POMGNT2 EMD DMD COL6A3 COL6A1 B3GNT2
26 ptosis 11.3 SCN4A RYR1 DNM2 DMD CRYAA CLCN1
27 charcot-marie-tooth disease 11.3 SCN4A EMD DNM2 DMD CRYAA CLCN1
28 autosomal recessive limb-girdle muscular dystrophy 11.3 TTN TRIM32 DMD COL6A1 ANO5
29 atrial standstill 1 11.3 TTN GAA EMD DMD ACADVL
30 dilated cardiomyopathy 11.2 TTN SERPINA3 GAA EMD DMD ACADVL
31 autosomal recessive limb-girdle muscular dystrophy type 2a 11.2 TTN TRIM32 DMD ANO5
32 muscular dystrophy, congenital merosin-deficient, 1a 11.2 EMD DMD COL6A1 B3GNT2
33 muscular dystrophy-dystroglycanopathy , type c, 5 11.2 TTN TRIM32 POMGNT2 ANO5
34 ocular motility disease 11.2 SERPINA3 RYR1 DNM2 CRYAA
35 neuromuscular junction disease 11.2 TTN SERPINA3 SCN4A H2AC18
36 ullrich congenital muscular dystrophy 1 11.2 DMD CRYAA COL6A3 COL6A1
37 centronuclear myopathy 11.2 TTN RYR1 DNM2 DMD
38 intrinsic cardiomyopathy 11.2 CRYAA TTN H2AC18 DMD
39 muscular dystrophy, limb-girdle, autosomal recessive 2 11.2 TTN TRIM32 DMD ANO5
40 x-linked recessive disease 11.2 SERPINA3 H2AC18 DMD CRYAA
41 x-linked monogenic disease 11.2 SERPINA3 H2AC18 DMD CRYAA
42 contractures, pterygia, and variable skeletal fusions syndrome 1a 11.1 SERPINA3 RYR1 H2AC18 CRYAA
43 autosomal genetic disease 11.1 SERPINA3 RYR1 H2AC18 CRYAA
44 arrhythmogenic right ventricular cardiomyopathy 11.1 TTN RYR1 EMD DMD
45 isolated elevated serum creatine phosphokinase levels 11.1 GAA DMD ANO5
46 myopathy, proximal, and ophthalmoplegia 11.1 RYR1 EMD COL6A1
47 muscular dystrophy, limb-girdle, autosomal recessive 7 11.1 TTN TRIM32 DMD
48 autosomal recessive limb-girdle muscular dystrophy type 2g 11.1 TTN TRIM32 ANO5
49 creatine phosphokinase, elevated serum 11.1 GAA DMD ANO5
50 muscular dystrophy, limb-girdle, autosomal recessive 6 11.1 TTN TRIM32 DMD

Graphical network of the top 20 diseases related to Muscular Disease:



Diseases related to Muscular Disease

Symptoms & Phenotypes for Muscular Disease

UMLS symptoms related to Muscular Disease:


muscle weakness, myoclonus, myalgia, back pain, torticollis, sciatica, muscle cramp, joint symptom, muscle rigidity, muscle spasticity, spasmodic torticollis, musculoskeletal symptom, leg cramps

MGI Mouse Phenotypes related to Muscular Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10 ACADVL ANO5 B3GNT2 CLCN1 DMD EMD
2 cellular MP:0005384 9.9 ACADVL ANO5 B3GNT2 COL6A3 DMD DNM2
3 growth/size/body region MP:0005378 9.73 ACADVL B3GNT2 CLCN1 COL6A3 DMD DNM2
4 muscle MP:0005369 9.44 ACADVL ANO5 CLCN1 COL6A1 COL6A3 DMD

Drugs & Therapeutics for Muscular Disease

Drugs for Muscular Disease (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
Simvastatin Approved Phase 4 79902-63-9 54454
3
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
4
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
5
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
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
Atorvastatin Approved Phase 4 134523-00-5 60823
10
Methyltestosterone Approved Phase 4 58-18-4 6010
11
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0
12
Testosterone Approved, Experimental, Investigational Phase 4 58-22-0, 481-30-1 6013 10204
13
Testosterone enanthate Approved Phase 4 315-37-7 9416
14
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
15
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
16 Clofibric Acid Phase 4 882-09-7
17 Platelet Aggregation Inhibitors Phase 4
18 Red yeast rice Phase 4
19 Red Yeast Phase 4
20 policosanol Phase 4
21 Protective Agents Phase 4
22 Hormones Phase 4
23 Anti-Inflammatory Agents Phase 4
24 Hormone Antagonists Phase 4
25 Gastrointestinal Agents Phase 4
26 glucocorticoids Phase 4
27 Methylprednisolone Acetate Phase 4
28 Neuroprotective Agents Phase 4
29 Antiemetics Phase 4
30 Autonomic Agents Phase 4
31 Vasodilator Agents Phase 4
32 Sildenafil Citrate Phase 4 171599-83-0
33 Citrate Phase 4
34 Phosphodiesterase 5 Inhibitors Phase 4
35 Phosphodiesterase Inhibitors Phase 4
36 Hypolipidemic Agents Phase 4
37 Anticholesteremic Agents Phase 4
38 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
39 Antimetabolites Phase 4
40 Lipid Regulating Agents Phase 4
41 Anabolic Agents Phase 4
42 Antineoplastic Agents, Hormonal Phase 4
43 Androgens Phase 4
44 Testosterone 17 beta-cypionate Phase 4
45
Infliximab Approved Phase 2, Phase 3 170277-31-3
46
Abatacept Approved Phase 3 332348-12-6 10237
47
Acetylcholine Approved, Investigational Phase 3 51-84-3 187
48
Risedronate Approved, Investigational Phase 3 105462-24-6 5245
49
Denosumab Approved Phase 3 615258-40-7
50
Zoledronic Acid Approved Phase 3 118072-93-8 68740

Interventional clinical trials:

(show top 50) (show all 199)
# Name Status NCT ID Phase Drugs
1 Investigations on Differences in Atorvastatin Metabolite Ratios as a Diagnostic Tool in Detecting Atorvastatin Induced Myotoxicity Completed NCT00199745 Phase 4 atorvastatin
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 Long Term Efficacy and Tolerability of a Nutraceutical Combination (Red Yeast Rice, Policosanols and Berberine) in Low-moderate Risk Hypercholesterolemic Patients: a Double-blind, Placebo Controlled Study Completed NCT02078167 Phase 4
5 Near Infrared Spectroscopy to Diagnose Statin-Associated Muscle Symptoms Recruiting NCT03653663 Phase 4 Simvastatin 20 mg;Placebo Oral Tablet
6 Electrical Stimulation to Reduce Length of Stay and Duration of Intubation in the Neurosciences-intensive Care Unit (NSICU) Recruiting NCT03547687 Phase 4
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 Double Blind, Prospective Randomized, Crossover Study of Patients With Muscle Complaints on Statin Therapy Terminated NCT00127335 Phase 4 cellulose placebo vs. atorvastatin
9 Testosterone Replacement for Older Men With Sarcopenia Terminated NCT00240981 Phase 4 Topical testosterone gel 1% (active formulation);Topical gel (placebo formulation)
10 Pharmacological Treatment of a Rare Genetic Disease: Pilot Trial Phase II-III With N-acetylcysteine in Myopathy Associated SEPN1-RM (Selenoprotein N-related Myopathy) Unknown status NCT02505087 Phase 2, Phase 3 N-Acetylcysteine followed by Placebo;Placebo followed by N-Acetylcysteine
11 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
12 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
13 A Phase 3 Extension Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Completed NCT02090959 Phase 3 Ataluren
14 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
15 An Open Trial With TNF Blockade With Infliximab (Remicade®), in Patients With Chronic Inflammatory Myopathies Completed NCT00443222 Phase 2, Phase 3 Infliximab
16 Investigation of Kritech Efficacy on Subjects Having Functional Discomfort Associated to Joints and Muscles Disorders Completed NCT02318875 Phase 3
17 A Phase 3 Efficacy and Safety Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Completed NCT01826487 Phase 3 Ataluren;Placebo
18 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) Recruiting NCT02971683 Phase 3 Abatacept subcutaneous;Placebo
19 Electromyographic Study for the Help and Guidance of BoNTA Administration in the Treatment of Chronic Pelvic Floor Pain Recruiting NCT03715777 Phase 3 Clostridium botulinum type A (BoNTA)
20 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 Recruiting NCT03179631 Phase 3 Ataluren;PLACEBO
21 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 Myopathy Followed by an Open-Label Treatment Extension Active, not recruiting NCT03323749 Phase 3
22 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
23 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
24 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
25 Treatment of TNNT1-Myopathy With L-Tyrosine. A Double-blind, Placebo-controlled Crossover Trial. Unknown status NCT02035501 Phase 2 L-Tyrosine;Placebo
26 Exercise Training and Deconditions: Implications for Therapy in Mitochondrial Myopathy Unknown status NCT00457314 Phase 2
27 Pilot Study of the Impact of Rosuvastatin Administration on Residual Chronic Immune Activation Under Antiretroviral Therapy: CESAR (Crestor En Sus Des AntiRétroviraux) Unknown status NCT01874743 Phase 2 Rosuvastatin 20 mg/day
28 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
29 A Phase 1/2 Multi-Center, Randomized, Double-Blind, Placebo-Controlled, Multiple Ascending-Dose Clinical Study Investigating the Safety, Tolerability, and Efficacy of Intravenous MTP-131 for the Treatment of Mitochondrial Myopathy in Subjects With Genetically Confirmed Mitochondrial Disease Completed NCT02367014 Phase 1, Phase 2 MTP-131;MTP-131;MTP-131;Placebo
30 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
31 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, TBD mg;omaveloxolone capsules, 40 mg;omaveloxolone capsules, 80 mg;omaveloxolone capsules, 160 mg
32 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
33 Low Protein Diet to Correct Defective Autophagy in Patients With Collagen VI Related Myopathies Completed NCT01438788 Phase 2
34 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
35 An Open-Label Phase 2 Study of ManNAc in Subjects With GNE Myopathy Completed NCT02346461 Phase 2 ManNAc;ManNAc
36 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
37 The Effect of Bracing and Strengthening Exercises on Posterior Tibial Tendon Dysfunction Completed NCT00756457 Phase 2
38 Antioxidant Therapy in RYR1-Related Congenital Myopathy Completed NCT02362425 Phase 1, Phase 2 N-acetylcysteine;Placebo
39 A Phase 2, Multicenter, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Safety, Tolerability, and Efficacy of Zilucoplan in Subjects With Immune-Mediated Necrotizing Myopathy Recruiting NCT04025632 Phase 2 zilucoplan
40 A Phase 2 Randomized, Double-blind, Placebo-controlled, Crossover Multicenter Study to Evaluate the Safety and Efficacy of KZR-616 in the Treatment of Patients With Active Polymyositis or Dermatomyositis Recruiting NCT04033926 Phase 2 KZR-616;Placebo
41 An Open-Label Pilot Study of Losmapimod to Evaluate the Safety, Tolerability, and Changes in Biomarker and Clinical Outcome Assessments in Subjects With Facioscapulohumeral Muscular Dystrophy 1 (FSHD1) Recruiting NCT04004000 Phase 2 Losmapimod
42 ASPIRO: A Phase 1/2, Randomized, Open-Label, Ascending-Dose, Delayed-Treatment Concurrent Control Clinical Study to Evaluate the Safety and Efficacy of AT132, an AAV8-Delivered Gene Therapy in X-Linked Myotubular Myopathy (XLMTM) Patients Recruiting NCT03199469 Phase 1, Phase 2
43 An Open-label Study of Sodium Thiosulfate for Treatment of Calcinosis Associated With Juvenile and Adult Dermatomyositis Recruiting NCT03267277 Phase 2 Sodium Thiosulfate
44 A Phase 2, Randomized, Double-Blind, Placebo-Controlled Trial Evaluating the Safety and Efficacy of Intravenous Delivery of Allogeneic Cardiosphere-Derived Cells in Subjects With Duchenne Muscular Dystrophy Active, not recruiting NCT03406780 Phase 2 Placebo
45 A Phase I/II, Open Label, Single Dose Clinical Study to Evaluate the Safety and Therapeutic Effects of Transplantation of MNV-BM-BLD (Autologous cd34+ Cells Enriched With Blood Derived Mitochondria) in Pediatric Patients With Pearson Syndrome Enrolling by invitation NCT03384420 Phase 1, Phase 2
46 Low-dose Interleukin-2 Treatment on Idiopathic Inflammatory Myopathy Not yet recruiting NCT04062019 Phase 2 Interleukin-2
47 A Phase 1/2 Trial on the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Exploratory Efficacy of DYN101 in Patients ≥ 16 Years of Age With Centronuclear Myopathies Caused by Mutations in DNM2 or MTM1. Not yet recruiting NCT04033159 Phase 1, Phase 2 DYN101
48 An Open-Label Phase 2 Safety and Efficacy Study of EPI-743 (VincerinoneTM) in Children With Pearson Syndrome Terminated NCT02104336 Phase 2 EPI-743
49 A Phase 2 Open-label Study to Evaluate the Safety of Aceneuramic Acid Extended Release (Ace-ER) Tablets in GNE Myopathy (GNEM) (Also Known as Hereditary Inclusion Body Myopathy (HIBM)) Patients With Severe Ambulatory Impairment Terminated NCT02731690 Phase 2 Aceneuramic Acid Extended-Release
50 Therapeutic Effect of Recombinant Human Growth Hormone (rhGH) on the Myopathy of Cystinosis Withdrawn NCT02124070 Phase 1, Phase 2 rh Growth Hormone

Search NIH Clinical Center for Muscular Disease

Genetic Tests for Muscular Disease

Genetic tests related to Muscular Disease:

# Genetic test Affiliating Genes
1 Muscular Diseases 29

Anatomical Context for Muscular Disease

MalaCards organs/tissues related to Muscular Disease:

40
Skeletal Muscle, Testes, Brain, Bone, Heart, Skin, Bone Marrow

Publications for Muscular Disease

Articles related to Muscular Disease:

(show top 50) (show all 848)
# Title Authors PMID Year
1
A novel myopathy-associated mitochondrial DNA mutation altering the conserved size of the tRNA(Gln) anticodon loop. 6
10996779 2000
2
A mitochondrial tRNA anticodon swap associated with a muscle disease. 6
7689388 1993
3
Obstetric management of a woman with limb-girdle muscular dystrophy type 2i and dilated cardiomyopathy. 61
31853262 2019
4
Cardiopulmonary exercise testing and echocardiographic exam: an useful interaction. 61
31796047 2019
5
Detection of collagens by multispectral optoacoustic tomography as an imaging biomarker for Duchenne muscular dystrophy. 61
31792454 2019
6
High glucose inhibits myogenesis and induces insulin resistance by down-regulating AKT signaling. 61
31634780 2019
7
Myomaker, and Myomixer-Myomerger-Minion modulate the efficiency of skeletal muscle development with melatonin supplementation through Wnt/β-catenin pathway. 61
31682812 2019
8
Interleaved 31 P MRS/1 H ASL for analysis of metabolic and functional heterogeneity along human lower leg muscles at 7T. 61
31846116 2019
9
Fis1 deficiencies differentially affect mitochondrial quality in skeletal muscle. 61
31526891 2019
10
A simple and rapid immunoassay predicts dysferlinopathies in peripheral blood film. 61
31668500 2019
11
Transcriptomic Analysis Reveals Involvement of the Macrophage Migration Inhibitory Factor Gene Network in Duchenne Muscular Dystrophy. 61
31752120 2019
12
Quantitation of cytidine-5'-monophospho-N-acetylneuraminic acid in human leukocytes using LC-MS/MS: method development and validation. 61
31691999 2019
13
Peptide-conjugated oligonucleotides evoke long-lasting myotonic dystrophy correction in patient-derived cells and mice. 61
31479430 2019
14
Genetic regulatory variation in populations informs transcriptome analysis in rare disease. 61
31601707 2019
15
Serum lactate dehydrogenase activity and its isoenzyme patterns in patients with pectus excavatum. 61
31737320 2019
16
Identification of 2,6-Disubstituted 3H-Imidazo[4,5-b]pyridines as Therapeutic Agents for Dysferlinopathies through Phenotypic Screening on Patient-Derived Induced Pluripotent Stem Cells. 61
31550153 2019
17
Influence of microRNAs and exosomes in muscle health and diseases. 61
31564031 2019
18
Mortality and Cause of Death in Patients with Vertebral Fractures: A Longitudinal Follow-Up Study Using a National Sample Cohort. 61
31568093 2019
19
[Nutritional problematic related to frailty and sarcopenia in older]. 61
31368339 2019
20
Overlap myositis, a distinct entity beyond primary inflammatory myositis: A retrospective analysis of a large cohort from the REMICAM registry. 61
30968571 2019
21
Blockade of TRPV2 is a Novel Therapy for Cardiomyopathy in Muscular Dystrophy. 61
31394715 2019
22
Growth Hormone Increases Bone Toughness and Decreases Muscle Inflammation in Glucocorticoid-Treated Mdx Mice, Model of Duchenne Muscular Dystrophy. 61
31188496 2019
23
Amelioration of muscle wasting by glucagon-like peptide-1 receptor agonist in muscle atrophy. 61
31020810 2019
24
Circular RNA Regulation of Myogenesis. 61
31412632 2019
25
Relationships Between Chemical Structure and Antioxidant Activity of Isolated Phytocompounds from Lemon Verbena. 61
31434276 2019
26
Optimization of Dexamethasone Administration for Maintaining Global Transduction Efficacy of Adeno-Associated Virus Serotype 9. 61
30700148 2019
27
Roles of lncRNAs and circRNAs in regulating skeletal muscle development. 61
31365949 2019
28
Human Skeletal Muscle Cells Derived from the Orbicularis Oculi Have Regenerative Capacity for Duchenne Muscular Dystrophy. 61
31337111 2019
29
Novel compound heterozygous GFPT1 mutations in a family with limb-girdle myasthenia with tubular aggregates. 61
31255525 2019
30
A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F. 61
31071488 2019
31
Expression of myxovirus-resistance protein A: a possible marker of muscle disease activity and autoantibody specificities in juvenile dermatomyositis. 61
29770465 2019
32
Coexistence of a CAV3 mutation and a DMD deletion in a family with complex muscular diseases. 61
30723005 2019
33
Three novel MTM1 pathogenic variants identified in Japanese patients with X-linked myotubular myopathy. 61
30884204 2019
34
Beta2-adrenergic receptor in kidney biology: A current prospective. 61
30848004 2019
35
Microfluidic devices for disease modeling in muscle tissue. 61
30193908 2019
36
Interferon Chemokine Score and Other Cytokine Measures Track With Changes in Disease Activity in Patients With Juvenile and Adult Dermatomyositis. 61
31777784 2019
37
Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome. 61
30931400 2019
38
Heart Transplantation Ameliorates Ambulation Capacity in Patients With Muscular Dystrophy - An Analysis of 9 Cases. 61
30686808 2019
39
The two mutations of actin-myosin interface and their effect on the dynamics, structures, and functions of skeletal muscle actin. 61
29338614 2019
40
COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report. 61
30808312 2019
41
Resistance Exercise Improves Mitochondrial Quality Control in a Rat Model of Sporadic Inclusion Body Myositis. 61
30641518 2019
42
Muscle endurance deficits in myositis patients despite normal manual muscle testing scores. 61
30028529 2019
43
Musculoskeletal Manifestations of Sarcoidosis: A Review Article. 61
29692254 2019
44
Identification of Candidate Protein Markers in Skeletal Muscle of Laminin-211-Deficient CMD Type 1A-Patients. 61
31133972 2019
45
A nationwide survey on tracheostomy for very-low-birth-weight infants in Japan. 61
30525314 2019
46
Hand Movement Classification Using Burg Reflection Coefficients. 61
30682797 2019
47
Impact of Physical Exercise on Gut Microbiome, Inflammation, and the Pathobiology of Metabolic Disorders. 61
31380886 2019
48
Report on Abstracts of the 15th Meeting of IIM, the Interuniversity Institute of Myology - Assisi (Italy), October 11-14, 2018. 61
30662705 2018
49
Experiences with bariatric surgery in patients with facioscapulohumeral dystrophy and myotonic dystrophy type 1: A qualitative study. 61
30342904 2018
50
Cardiac Phenotypes in Hereditary Muscle Disorders: JACC State-of-the-Art Review. 61
30442292 2018

Variations for Muscular Disease

ClinVar genetic disease variations for Muscular Disease:

6 (show top 50) (show all 66) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCN4A NM_000334.4(SCN4A):c.2024G>A (p.Arg675Gln)SNV Pathogenic 5919 rs121908557 17:62034874-62034874 17:63957514-63957514
2 TRIM32 NM_012210.3(TRIM32):c.1459G>A (p.Asp487Asn)SNV Pathogenic 7350 rs111033570 9:119461480-119461480 9:116699201-116699201
3 CAPN3 , SGCB NM_000070.3(CAPN3):c.550del (p.Thr184fs)deletion Pathogenic 17621 rs80338800 15:42680002-42680002 15:42387804-42387804
4 TTN NM_001267550.2(TTN):c.42482_42485TTGT[1] (p.Cys14163fs)short repeat Pathogenic 212468 rs797046064 2:179498737-179498740 2:178634010-178634013
5 TTN NM_001267550.2(TTN):c.23903_23904delinsA (p.Gly7968fs)indel Pathogenic 212463 rs797046060 2:179584315-179584316 2:178719588-178719589
6 COL6A3 NM_004369.3(COL6A3):c.6181C>T (p.Arg2061Ter)SNV Pathogenic 210752 rs797045479 2:238269793-238269793 2:237361150-237361150
7 RYR1 NM_000540.2(RYR1):c.1878_1882del (p.Pro626_Gly627insTer)deletion Pathogenic 212098 rs797045931 19:38948223-38948227 19:38457583-38457587
8 RYR1 NM_000540.2(RYR1):c.2505del (p.Pro836fs)deletion Pathogenic 212099 rs797045932 19:38951159-38951159 19:38460519-38460519
9 RYR1 NM_000540.2(RYR1):c.3381+1G>ASNV Pathogenic 212103 rs797045934 19:38958453-38958453 19:38467813-38467813
10 RYR1 NM_000540.2(RYR1):c.8724C>A (p.Tyr2908Ter)SNV Pathogenic 212107 rs797045935 19:38997500-38997500 19:38506860-38506860
11 COL6A1 NM_001848.2(COL6A1):c.1003-2A>GSNV Pathogenic 210745 rs797045477 21:47410685-47410685 21:45990771-45990771
12 TTN NM_001267550.2(TTN):c.74567G>A (p.Trp24856Ter)SNV Pathogenic 374037 rs1057518851 2:179436292-179436292 2:178571565-178571565
13 DMD NM_004006.2(DMD):c.5699T>G (p.Leu1900Ter)SNV Pathogenic 374059 rs1057518866 X:32361291-32361291 X:32343174-32343174
14 EMD NM_000117.2(EMD):c.184dup (p.Ser62fs)duplication Pathogenic 523333 rs1557182317 X:153608151-153608151 X:154379791-154379791
15 CDRT4 , HS3ST3B1 , PMP22 , TEKT3 , TVP23C , TVP23C-CDRT4 GRCh37/hg19 17p12(chr17:14215739-15422582)copy number loss Pathogenic 523238 17:14215739-15422582
16 CDRT4 , HS3ST3B1 , PMP22 , TEKT3 , TVP23C , TVP23C-CDRT4 GRCh37/hg19 17p12(chr17:14215739-15422582)copy number loss Pathogenic 523259 17:14215739-15422582
17 DMD NM_004006.2(DMD):c.7580T>A (p.Leu2527Ter)SNV Pathogenic 689572 X:31747828-31747828 X:31729711-31729711
18 MT-TQ m.4369_4370insAduplication Pathogenic 9614 rs199476140 MT:4369-4369 MT:4369-4369
19 MT-TP m.15990C>TSNV Pathogenic 9570 rs199474699 MT:15990-15990 MT:15990-15990
20 DNM2 NM_001005360.2(DNM2):c.1102G>A (p.Glu368Lys)SNV Pathogenic 7282 rs121909092 19:10904505-10904505 19:10793829-10793829
21 GAA NM_000152.5(GAA):c.-32-13T>GSNV Pathogenic 4027 rs386834236 17:78078341-78078341 17:80104542-80104542
22 CLCN1 NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)SNV Pathogenic/Likely pathogenic 17545 rs55960271 7:143048771-143048771 7:143351678-143351678
23 ACADVL NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln)SNV Pathogenic/Likely pathogenic 203585 rs751995154 17:7127330-7127330 17:7224011-7224011
24 ANO5 NM_001142649.2(ANO5):c.188dup (p.Asn63fs)duplication Pathogenic/Likely pathogenic 2164 rs137854521 11:22242653-22242653 11:22221107-22221107
25 RAPSN NM_005055.5(RAPSN):c.490C>T (p.Arg164Cys)SNV Likely pathogenic 8054 rs104894294 11:47469405-47469405 11:47447853-47447853
26 MYH7 NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys)SNV Likely pathogenic 164324 rs2754158 14:23894085-23894085 14:23424876-23424876
27 TPM3 NM_152263.4(TPM3):c.734G>T (p.Arg245Ile)SNV Likely pathogenic 212412 rs797046047 1:154142917-154142917 1:154170441-154170441
28 MYH7 NM_000257.4(MYH7):c.4886T>C (p.Leu1629Pro)SNV Likely pathogenic 211558 rs797045730 14:23885280-23885280 14:23416071-23416071
29 RYR1 NM_000540.2(RYR1):c.3235_3240dup (p.Ser1079_Tyr1080dup)duplication Likely pathogenic 212102 rs797045933 19:38958306-38958311 19:38467666-38467671
30 DMD NM_004006.2(DMD):c.177del (p.Gln60fs)deletion Likely pathogenic 374010 rs1057518834 X:32867854-32867854 X:32849737-32849737
31 RYR1 NM_000540.2(RYR1):c.1186G>A (p.Glu396Lys)SNV Likely pathogenic 374199 rs774919231 19:38942467-38942467 19:38451827-38451827
32 RYR1 NM_000540.2(RYR1):c.8463G>A (p.Trp2821Ter)SNV Likely pathogenic 373926 rs1057518773 19:38996508-38996508 19:38505868-38505868
33 ANO5 NM_213599.2(ANO5):c.2029+2dupduplication Likely pathogenic 374043 rs1057518855 11:22291990-22291990 11:22270444-22270444
34 ACADVL NM_000018.4(ACADVL):c.1358G>A (p.Arg453Gln)SNV Likely pathogenic 374123 rs138058572 17:7127312-7127312 17:7223993-7223993
35 DPM3 NM_153741.2(DPM3):c.137T>A (p.Leu46Gln)SNV Likely pathogenic 374109 rs1057518905 1:155112580-155112580 1:155140104-155140104
36 COL6A2 NM_001849.3(COL6A2):c.892G>A (p.Gly298Arg)SNV Likely pathogenic 210750 rs797045478 21:47535959-47535959 21:46116045-46116045
37 TTN NM_001267550.2(TTN):c.35265dup (p.Pro11756fs)duplication Likely pathogenic 523429 rs1198364572 2:179535860-179535860 2:178671133-178671133
38 CAPN3 NM_000070.3(CAPN3):c.632+5G>ASNV Likely pathogenic 523316 rs1555420508 15:42680089-42680089 15:42387891-42387891
39 SFTPC NM_003018.4(SFTPC):c.163C>T (p.Leu55Phe)SNV Likely pathogenic 598978 rs1563221666 8:22020207-22020207 8:22162694-22162694
40 TTN NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter)SNV Conflicting interpretations of pathogenicity 202529 rs757082154 2:179392218-179392218 2:178527491-178527491
41 TTN NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn)SNV Conflicting interpretations of pathogenicity 191971 rs201257644 2:179500777-179500777 2:178636050-178636050
42 TTN NM_001267550.2(TTN):c.73604C>A (p.Ser24535Tyr)SNV Conflicting interpretations of pathogenicity 179981 rs201804005 2:179437255-179437255 2:178572528-178572528
43 TTN NM_001267550.2(TTN):c.93803A>C (p.Lys31268Thr)SNV Conflicting interpretations of pathogenicity 179037 rs200766837 2:179412550-179412550 2:178547823-178547823
44 TTN NM_001267550.2(TTN):c.81899G>A (p.Arg27300His)SNV Conflicting interpretations of pathogenicity 47404 rs55850344 2:179428960-179428960 2:178564233-178564233
45 COL6A2 NM_001849.3(COL6A2):c.2633C>T (p.Ala878Val)SNV Conflicting interpretations of pathogenicity 210748 rs774521989 21:47552039-47552039 21:46132125-46132125
46 ANO5 NM_213599.2(ANO5):c.1664G>T (p.Ser555Ile)SNV Conflicting interpretations of pathogenicity 286450 rs375014127 11:22283708-22283708 11:22262162-22262162
47 RYR1 NM_000540.2(RYR1):c.844C>T (p.Arg282Trp)SNV Conflicting interpretations of pathogenicity 374200 rs1057518970 19:38939038-38939038 19:38448398-38448398
48 DYNC1H1 NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys)SNV Conflicting interpretations of pathogenicity 374099 rs879253979 14:102446288-102446288 14:101979951-101979951
49 DYNC1H1 NM_001376.5(DYNC1H1):c.5311G>A (p.Gly1771Arg)SNV Conflicting interpretations of pathogenicity 373991 rs139842853 14:102471451-102471451 14:102005114-102005114
50 SCN4A NM_000334.4(SCN4A):c.3424C>T (p.Arg1142Ter)SNV Conflicting interpretations of pathogenicity 453303 rs912001256 17:62024422-62024422 17:63947062-63947062

Expression for Muscular Disease

Search GEO for disease gene expression data for Muscular Disease.

Pathways for Muscular Disease

GO Terms for Muscular Disease

Cellular components related to Muscular Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sarcolemma GO:0042383 9.02 RYR1 DMD COL6A3 COL6A1 CLCN1
2 collagen type VI trimer GO:0005589 8.96 COL6A3 COL6A1

Biological processes related to Muscular Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.5 EMD DMD COL6A3
2 growth plate cartilage chondrocyte morphogenesis GO:0003429 9.37 COL6A3 COL6A1
3 cardiac muscle contraction GO:0060048 9.33 TTN GAA DMD
4 striated muscle contraction GO:0006941 9.26 TTN GAA
5 muscle cell cellular homeostasis GO:0046716 9.13 TRIM32 GAA DMD
6 muscle contraction GO:0006936 9.02 TTN SCN4A RYR1 EMD CLCN1

Molecular functions related to Muscular Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nitric-oxide synthase binding GO:0050998 8.62 DNM2 DMD

Sources for Muscular Disease

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