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


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), and among its related pathways/superpathways is Cardiac conduction. 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 cardiovascular system

Wikipedia : 75 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 136)
# Related Disease Score Top Affiliating Genes
1 myopathy 34.7 TTN RYR1 GAA EMD COL6A3 COL6A1
2 muscular dystrophy 32.8 UTRN TTN TRIM32 RYR1 POMGNT2 GAA
3 neuromuscular disease 32.3 UTRN TTN SMN2 SCN4A RYR1 GAA
4 myotonia 31.9 SCN4A DMPK CLCN1
5 muscular dystrophy, congenital, lmna-related 31.7 TTN POMGNT2 EMD DMD COL6A3 COL6A1
6 myopathy, congenital 31.5 RYR1 GAA DNM2 DMD
7 limb-girdle muscular dystrophy 31.2 TTN TRIM32 DMD ANO5
8 hypokalemic periodic paralysis, type 1 31.1 SCN4A RYR1 CLCN1
9 miyoshi muscular dystrophy 31.1 TTN DMD ANO5
10 atrophic muscular disease 12.1
11 muscle tissue disease 11.5 UTRN SMN2 RYR1 GAA EMD DMPK
12 atrial standstill 1 11.3 TTN GAA EMD DMD ACADVL
13 centronuclear myopathy 11.3 TTN RYR1 DNM2 DMD
14 rigid spine muscular dystrophy 1 11.3 TTN RYR1 GAA DMD
15 myopathy, proximal, and ophthalmoplegia 11.2 RYR1 EMD COL6A1
16 isolated hyperckemia 11.2 GAA DMD ANO5
17 muscular dystrophy, limb-girdle, autosomal recessive 7 11.2 TTN TRIM32 DMD
18 creatine phosphokinase, elevated serum 11.2 GAA DMD ANO5
19 familial periodic paralysis 11.2 SCN4A RYR1 CLCN1
20 brody myopathy 11.2 RYR1 DMD CLCN1
21 arrhythmogenic right ventricular cardiomyopathy 11.2 TTN RYR1 EMD DMD
22 myotonic dystrophy 2 11.2 SCN4A DMPK CLCN1
23 muscular dystrophy-dystroglycanopathy , type c, 5 11.2 TTN TRIM32 POMGNT2
24 myotonic disease 11.2 SCN4A DMPK CLCN1
25 myopathy, x-linked, with excessive autophagy 11.2 GAA EMD DMD
26 muscular dystrophy, limb-girdle, autosomal recessive 6 11.2 TTN TRIM32 DMD
27 autosomal recessive limb-girdle muscular dystrophy 11.2 TRIM32 DMD ANO5
28 bethlem myopathy 1 11.2 DMD COL6A3 COL6A1
29 congenital fiber-type disproportion 11.1 RYR1 EMD DMD
30 autosomal genetic disease 11.1 UTRN RYR1 DMD
31 cytoplasmic body myopathy 11.1 UTRN DMD
32 cardioneuromyopathy with hyaline masses and nemaline rods 11.1 TTN DMD
33 collagen vi-related myopathy 11.1 COL6A3 COL6A1
34 myopathy, centronuclear, 2 11.1 TTN RYR1
35 charcot-marie-tooth disease, dominant intermediate b 11.0 RYR1 DNM2
36 peripheral nervous system disease 11.0 TTN SMN2 DNM2
37 myoglobinuria, recurrent 11.0 DMD ACADVL
38 tenosynovial giant cell tumor 11.0 SERPINA3 COL6A3
39 reducing body myopathy 11.0 TTN DMD
40 muscular dystrophy, limb-girdle, autosomal recessive 8 10.9 TTN TRIM32
41 hyperkalemic periodic paralysis 10.9 SCN4A CLCN1
42 emery-dreifuss muscular dystrophy 7, autosomal dominant 10.9
43 muscular dystrophy-dystroglycanopathy , type c, 8 10.9
44 diaphragm disease 10.9
45 myopathy, centronuclear, 1 10.8 RYR1 DNM2
46 dystrophinopathies 10.7 UTRN DMD
47 central core disease of muscle 10.5 RYR1 GAA
48 polymyositis 10.1
49 myositis 10.0
50 muscular dystrophy, duchenne type 10.0

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:

# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.18 ACADVL ANO5 CLCN1 DMD EMD GAA
2 cardiovascular system MP:0005385 10.07 ACADVL DMD DMPK DNM2 EMD GAA
3 growth/size/body region MP:0005378 10.07 ACADVL CLCN1 COL6A3 DMD DNM2 GAA
4 cellular MP:0005384 10.06 ACADVL ANO5 COL6A3 DMD DNM2 EMD
5 homeostasis/metabolism MP:0005376 10.03 ACADVL ANO5 CLCN1 DMD DMPK DNM2
6 muscle MP:0005369 9.86 ACADVL ANO5 CLCN1 COL6A1 COL6A3 DMD
7 skeleton MP:0005390 9.23 CLCN1 COL6A3 DMD GAA RYR1 SMN2

Drugs & Therapeutics for Muscular Disease

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

(show top 50) (show all 181)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Bezafibrate Approved, Investigational Phase 4 41859-67-0 39042
Simvastatin Approved Phase 4 79902-63-9 54454
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
Sodium citrate Approved, Investigational Phase 4 68-04-2
Atorvastatin Approved Phase 4 134523-00-5 60823
Methyltestosterone Approved Phase 4 58-18-4 6010
Testosterone enanthate Approved Phase 4 315-37-7 9416
Testosterone Approved, Experimental, Investigational Phase 4 481-30-1, 58-22-0 6013 10204
Testosterone undecanoate Approved, Investigational Phase 4 5949-44-0
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
15 Clofibric Acid Phase 4 882-09-7
16 Platelet Aggregation Inhibitors Phase 4
17 Red yeast rice Phase 4
18 Red Yeast Phase 4
19 policosanol Phase 4
20 Protective Agents Phase 4
21 Hormones Phase 4
22 Anti-Inflammatory Agents Phase 4
23 Hormone Antagonists Phase 4
24 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
25 Gastrointestinal Agents Phase 4
26 glucocorticoids Phase 4
27 Autonomic Agents Phase 4
28 Prednisolone acetate Phase 4
29 Neuroprotective Agents Phase 4
30 Methylprednisolone Acetate Phase 4
31 Antiemetics Phase 4
32 Vasodilator Agents Phase 4
33 Sildenafil Citrate Phase 4 171599-83-0
34 Phosphodiesterase Inhibitors Phase 4
35 Citrate Phase 4
36 Phosphodiesterase 5 Inhibitors Phase 4
37 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
38 Lipid Regulating Agents Phase 4
39 Hypolipidemic Agents Phase 4
40 Anticholesteremic Agents Phase 4
41 Antimetabolites Phase 4
42 Androgens Phase 4
43 Anabolic Agents Phase 4
44 Antineoplastic Agents, Hormonal Phase 4
45 Testosterone 17 beta-cypionate Phase 4
Infliximab Approved Phase 2, Phase 3 170277-31-3
Abatacept Approved Phase 3 332348-12-6 10237
Acetylcholine Approved, Investigational Phase 3 51-84-3 187
Zoledronic Acid Approved Phase 3 118072-93-8 68740
Denosumab Approved Phase 3 615258-40-7

Interventional clinical trials:

(show top 50) (show all 201)
# 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 Testosterone Replacement for Older Men With Sarcopenia Terminated NCT00240981 Phase 4 Topical testosterone gel 1% (active formulation);Topical gel (placebo formulation)
9 Double Blind, Prospective Randomized, Crossover Study of Patients With Muscle Complaints on Statin Therapy Terminated NCT00127335 Phase 4 cellulose placebo vs. atorvastatin
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 A Phase 3 Efficacy and Safety Study of Ataluren (PTC124) in Patients With Nonsense Mutation Dystrophinopathy Completed NCT01826487 Phase 3 Ataluren;Placebo
17 Investigation of Kritech Efficacy on Subjects Having Functional Discomfort Associated to Joints and Muscles Disorders Completed NCT02318875 Phase 3
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 Fatty Acid Oxidation and Body Weight Regulation in Long-chain Fatty Acid Oxidation Disorders. Completed NCT01494051 Phase 1, Phase 2
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 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
32 Low Protein Diet to Correct Defective Autophagy in Patients With Collagen VI Related Myopathies Completed NCT01438788 Phase 2
33 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
34 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
35 The Effect of Bracing and Strengthening Exercises on Posterior Tibial Tendon Dysfunction Completed NCT00756457 Phase 2
36 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
37 An Open-Label Phase 2 Study of ManNAc in Subjects With GNE Myopathy Completed NCT02346461 Phase 2 ManNAc;ManNAc
38 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
39 Antioxidant Therapy in RYR1-Related Congenital Myopathy Completed NCT02362425 Phase 1, Phase 2 N-acetylcysteine;Placebo
40 Evaluation of the Effect of Bezafibrate on Muscle Metabolism During Exercise in Patients With CPTII and VLCAD Deficiency Completed NCT00983788 Phase 2 Bezafibrate
41 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
42 ASPIRO: A Phase 1/2, Randomized, Open-Label, Ascending-Dose, Delayed-Treatment Concurrent Control Clinical Study to Evaluate the Safety and Preliminary 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 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 Not yet recruiting NCT04025632 Phase 2 zilucoplan
47 Low-dose Interleukin-2 Treatment on Idiopathic Inflammatory Myopathy Not yet recruiting NCT04062019 Phase 2 Interleukin-2
48 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) Not yet recruiting NCT04004000 Phase 2 Losmapimod
49 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
50 An Open-Label Phase 2 Safety and Efficacy Study of EPI-743 (VincerinoneTM) in Children With Pearson Syndrome Terminated NCT02104336 Phase 2 EPI-743

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:

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

Publications for Muscular Disease

Articles related to Muscular Disease:

(show top 50) (show all 832)
# Title Authors PMID Year
A novel myopathy-associated mitochondrial DNA mutation altering the conserved size of the tRNA(Gln) anticodon loop. 71
10996779 2000
A mitochondrial tRNA anticodon swap associated with a muscle disease. 71
7689388 1993
Blockade of TRPV2 is a Novel Therapy for Cardiomyopathy in Muscular Dystrophy. 38
31394715 2019
Overlap myositis, a distinct entity beyond primary inflammatory myositis: A retrospective analysis of a large cohort from the REMICAM registry. 38
30968571 2019
Growth Hormone Increases Bone Toughness and Decreases Muscle Inflammation in Glucocorticoid-Treated Mdx Mice, Model of Duchenne Muscular Dystrophy. 38
31188496 2019
Correction of GSK3β in DM1 reduces the mutant RNA and improves postnatal survival of DMSXL mice. 38
31383751 2019
Circular RNA Regulation of Myogenesis. 38
31412632 2019
Relationships Between Chemical Structure and Antioxidant Activity of Isolated Phytocompounds from Lemon Verbena. 38
31434276 2019
Optimization of Dexamethasone Administration for Maintaining Global Transduction Efficacy of Adeno-Associated Virus Serotype 9. 38
30700148 2019
Roles of lncRNAs and circRNAs in regulating skeletal muscle development. 38
31365949 2019
[Nutritional problematic related to frailty and sarcopenia in older]. 38
31368339 2019
Novel compound heterozygous GFPT1 mutations in a family with limb-girdle myasthenia with tubular aggregates. 38
31255525 2019
Human Skeletal Muscle Cells Derived from the Orbicularis Oculi Have Regenerative Capacity for Duchenne Muscular Dystrophy. 38
31337111 2019
A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F. 38
31071488 2019
Expression of myxovirus-resistance protein A: a possible marker of muscle disease activity and autoantibody specificities in juvenile dermatomyositis. 38
29770465 2019
Three novel MTM1 pathogenic variants identified in Japanese patients with X-linked myotubular myopathy. 38
30884204 2019
Coexistence of a CAV3 mutation and a DMD deletion in a family with complex muscular diseases. 38
30723005 2019
Beta2-adrenergic receptor in kidney biology: A current prospective. 38
30848004 2019
Microfluidic devices for disease modeling in muscle tissue. 38
30193908 2019
Amelioration of muscle wasting by glucagon-like peptide-1 receptor agonist in muscle atrophy. 38
31020810 2019
Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome. 38
30931400 2019
The two mutations of actin-myosin interface and their effect on the dynamics, structures, and functions of skeletal muscle actin. 38
29338614 2019
COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report. 38
30808312 2019
Heart Transplantation Ameliorates Ambulation Capacity in Patients With Muscular Dystrophy - An Analysis of 9 Cases. 38
30686808 2019
A nationwide survey on tracheostomy for very-low-birth-weight infants in Japan. 38
30525314 2019
Resistance Exercise Improves Mitochondrial Quality Control in a Rat Model of Sporadic Inclusion Body Myositis. 38
30641518 2019
Muscle endurance deficits in myositis patients despite normal manual muscle testing scores. 38
30028529 2019
Musculoskeletal Manifestations of Sarcoidosis: A Review Article. 38
29692254 2019
Identification of Candidate Protein Markers in Skeletal Muscle of Laminin-211-Deficient CMD Type 1A-Patients. 38
31133972 2019
Hand Movement Classification Using Burg Reflection Coefficients. 38
30682797 2019
Impact of Physical Exercise on Gut Microbiome, Inflammation, and the Pathobiology of Metabolic Disorders. 38
31380886 2019
Report on Abstracts of the 15th Meeting of IIM, the Interuniversity Institute of Myology - Assisi (Italy), October 11-14, 2018. 38
30662705 2018
Cardiac Phenotypes in Hereditary Muscle Disorders: JACC State-of-the-Art Review. 38
30442292 2018
Experiences with bariatric surgery in patients with facioscapulohumeral dystrophy and myotonic dystrophy type 1: A qualitative study. 38
30342904 2018
Cross-section and feasibility study on the non-invasive evaluation of muscle hemodynamic responses in Duchenne muscular dystrophy by using a near-infrared diffuse optical technique. 38
30319901 2018
Muscle Stem Cell Immunostaining. 38
30106515 2018
Immunophenotyping lymphocyte and acute phase proteins in canine X-linked muscular dystrophy. 38
30304229 2018
Prevalence and Risk Factors for Musculoskeletal Pain in Keyboard Musicians: A Systematic Review. 38
29705171 2018
Pathological manifestations of Farber disease in a new mouse model. 38
29908121 2018
A Young Patient with Emery-Dreifuss Muscular Dystrophy Treated with Endovascular Therapy for Cardioembolic Stroke: A Case Report. 38
30191544 2018
Study protocol for the MEXiletine hydrochloride administration trial: a placebo-controlled, randomised, double-blind, multicentre, crossover study of its efficacy and safety in spinal and bulbar muscular atrophy (MEXPRESS). 38
30206090 2018
Long-term home non-invasive positive pressure ventilation in children: Results from a single center in Japan. 38
29636207 2018
Characterization of miRNA transcriptome profiles related to breast muscle development and intramuscular fat deposition in chickens. 38
29737555 2018
Isometric Finger Pose Recognition with Sparse Channel SpatioTemporal EMG Imaging. 38
30441518 2018
Does muscle biopsy change the treatment of pediatric muscular disease? 38
29845315 2018
Chemoenzymatic Assembly of Mammalian O-Mannose Glycans. 38
29802667 2018
Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect. 38
29735374 2018
Novel mosaic mutation in the dystrophin gene causing distal asymmetric muscle weakness of the upper limbs and dilated cardiomyopathy. 38
30057996 2018
Muscle ischaemia associated with NXP2 autoantibodies: a severe subtype of juvenile dermatomyositis. 38
29474663 2018
Feasibility of peripheral nerve MR neurography using diffusion tensor imaging adapted to skeletal muscle disease. 38
28795588 2018

Variations for Muscular Disease

ClinVar genetic disease variations for Muscular Disease:

6 (show top 50) (show all 59)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TTN NM_001267550.2(TTN): c.74567G> A (p.Trp24856Ter) single nucleotide variant Pathogenic rs1057518851 2:179436292-179436292 2:178571565-178571565
2 DMD NM_004006.2(DMD): c.5699T> G (p.Leu1900Ter) single nucleotide variant Pathogenic rs1057518866 X:32361291-32361291 X:32343174-32343174
3 EMD NM_000117.2(EMD): c.184dup (p.Ser62fs) duplication Pathogenic rs1557182317 X:153608151-153608151 X:154379791-154379791
4 CDRT4 ; HS3ST3B1 ; PMP22 ; TEKT3 ; TVP23C ; TVP23C-CDRT4 GRCh37/hg19 17p12(chr17: 14215739-15422582) copy number loss Pathogenic 17:14215739-15422582 :0-0
5 CDRT4 ; HS3ST3B1 ; PMP22 ; TEKT3 ; TVP23C ; TVP23C-CDRT4 GRCh37/hg19 17p12(chr17: 14215739-15422582) copy number loss Pathogenic 17:14215739-15422582 :0-0
6 GAA NM_000152.5(GAA): c.-32-13T> G single nucleotide variant Pathogenic rs386834236 17:78078341-78078341 17:80104542-80104542
7 SCN4A NM_000334.4(SCN4A): c.2024G> A (p.Arg675Gln) single nucleotide variant Pathogenic rs121908557 17:62034874-62034874 17:63957514-63957514
8 DNM2 NM_001005360.2(DNM2): c.1102G> A (p.Glu368Lys) single nucleotide variant Pathogenic rs121909092 19:10904505-10904505 19:10793829-10793829
9 TRIM32 NM_012210.3(TRIM32): c.1459G> A (p.Asp487Asn) single nucleotide variant Pathogenic rs111033570 9:119461480-119461480 9:116699201-116699201
10 MT-TP m.15990C> T single nucleotide variant Pathogenic rs199474699 MT:15990-15990 MT:15990-15990
11 MT-TQ m.4369_4370insA duplication Pathogenic rs199476140 MT:4369-4369 MT:4369-4369
12 CAPN3 ; SGCB NM_000070.3(CAPN3): c.550del (p.Thr184fs) deletion Pathogenic rs80338800 15:42680002-42680002 15:42387804-42387804
13 TTN NM_001267550.2(TTN): c.42482_42485TTGT[1] (p.Cys14163fs) short repeat Pathogenic rs797046064 2:179498737-179498740 2:178634010-178634013
14 TTN NM_001267550.2(TTN): c.23903_23904delinsA (p.Gly7968fs) indel Pathogenic rs797046060 2:179584315-179584316 2:178719588-178719589
15 COL6A3 NM_004369.3(COL6A3): c.6181C> T (p.Arg2061Ter) single nucleotide variant Pathogenic rs797045479 2:238269793-238269793 2:237361150-237361150
16 RYR1 NM_000540.2(RYR1): c.3381+1G> A single nucleotide variant Pathogenic rs797045934 19:38958453-38958453 19:38467813-38467813
17 RYR1 NM_000540.2(RYR1): c.8724C> A (p.Tyr2908Ter) single nucleotide variant Pathogenic rs797045935 19:38997500-38997500 19:38506860-38506860
18 COL6A1 NM_001848.2(COL6A1): c.1003-2A> G single nucleotide variant Pathogenic rs797045477 21:47410685-47410685 21:45990771-45990771
19 RYR1 NM_000540.2(RYR1): c.1878_1882del (p.Pro626_Gly627insTer) deletion Pathogenic rs797045931 19:38948223-38948227 19:38457583-38457587
20 RYR1 NM_000540.2(RYR1): c.2505del (p.Pro836fs) deletion Pathogenic rs797045932 19:38951159-38951159 19:38460519-38460519
21 ACADVL NM_000018.4(ACADVL): c.1376G> A (p.Arg459Gln) single nucleotide variant Pathogenic/Likely pathogenic rs751995154 17:7127330-7127330 17:7224011-7224011
22 CLCN1 NM_000083.3(CLCN1): c.2680C> T (p.Arg894Ter) single nucleotide variant Pathogenic/Likely pathogenic rs55960271 7:143048771-143048771 7:143351678-143351678
23 ANO5 NM_213599.2(ANO5): c.191dup (p.Asn64fs) duplication Pathogenic/Likely pathogenic rs137854521 11:22242653-22242653 11:22221107-22221107
24 DMD NM_004006.2(DMD): c.177del (p.Gln60fs) deletion Likely pathogenic rs1057518834 X:32867854-32867854 X:32849737-32849737
25 RYR1 NM_000540.2(RYR1): c.1186G> A (p.Glu396Lys) single nucleotide variant Likely pathogenic rs774919231 19:38942467-38942467 19:38451827-38451827
26 RYR1 NM_000540.2(RYR1): c.8463G> A (p.Trp2821Ter) single nucleotide variant Likely pathogenic rs1057518773 19:38996508-38996508 19:38505868-38505868
27 DPM3 NM_153741.2(DPM3): c.137T> A (p.Leu46Gln) single nucleotide variant Likely pathogenic rs1057518905 1:155112580-155112580 1:155140104-155140104
28 ANO5 NM_213599.2(ANO5): c.2029+2dup duplication Likely pathogenic rs1057518855 11:22291990-22291990 11:22270444-22270444
29 ACADVL NM_000018.4(ACADVL): c.1358G> A (p.Arg453Gln) single nucleotide variant Likely pathogenic rs138058572 17:7127312-7127312 17:7223993-7223993
30 MYH7 NM_000257.4(MYH7): c.2572C> T (p.Arg858Cys) single nucleotide variant Likely pathogenic rs2754158 14:23894085-23894085 14:23424876-23424876
31 TTN NM_001267550.2(TTN): c.35265dup (p.Pro11756fs) duplication Likely pathogenic rs1198364572 2:179535860-179535860 2:178671133-178671133
32 CAPN3 NM_000070.3(CAPN3): c.632+5G> A single nucleotide variant Likely pathogenic rs1555420508 15:42680089-42680089 15:42387891-42387891
33 RAPSN NM_005055.5(RAPSN): c.490C> T (p.Arg164Cys) single nucleotide variant Likely pathogenic rs104894294 11:47469405-47469405 11:47447853-47447853
34 TPM3 NM_152263.4(TPM3): c.734G> T (p.Arg245Ile) single nucleotide variant Likely pathogenic rs797046047 1:154142917-154142917 1:154170441-154170441
35 MYH7 NM_000257.4(MYH7): c.4886T> C (p.Leu1629Pro) single nucleotide variant Likely pathogenic rs797045730 14:23885280-23885280 14:23416071-23416071
36 SFTPC NM_003018.4(SFTPC): c.163C> T (p.Leu55Phe) single nucleotide variant Likely pathogenic 8:22020207-22020207 8:22162694-22162694
37 COL6A2 NM_001849.3(COL6A2): c.892G> A (p.Gly298Arg) single nucleotide variant Likely pathogenic rs797045478 21:47535959-47535959 21:46116045-46116045
38 RYR1 NM_000540.2(RYR1): c.3235_3240dup (p.Ser1079_Tyr1080dup) duplication Likely pathogenic rs797045933 19:38958306-38958311 19:38467666-38467671
39 COL6A2 NM_001849.3(COL6A2): c.2633C> T (p.Ala878Val) single nucleotide variant Conflicting interpretations of pathogenicity rs774521989 21:47552039-47552039 21:46132125-46132125
40 ANO5 NM_213599.2(ANO5): c.1664G> T (p.Ser555Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs375014127 11:22283708-22283708 11:22262162-22262162
41 RYR1 NM_000540.2(RYR1): c.2654G> A (p.Arg885His) single nucleotide variant Conflicting interpretations of pathogenicity rs370634440 19:38954139-38954139 19:38463499-38463499
42 TTN NM_001267550.2(TTN): c.81899G> A (p.Arg27300His) single nucleotide variant Conflicting interpretations of pathogenicity rs55850344 2:179428960-179428960 2:178564233-178564233
43 TTN NM_001267550.2(TTN): c.93803A> C (p.Lys31268Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs200766837 2:179412550-179412550 2:178547823-178547823
44 TTN NM_001267550.2(TTN): c.73604C> A (p.Ser24535Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs201804005 2:179437255-179437255 2:178572528-178572528
45 RAPSN NM_005055.5(RAPSN): c.264C> A (p.Asn88Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs104894299 11:47469631-47469631 11:47448079-47448079
46 TTN NM_001267550.2(TTN): c.41521G> A (p.Asp13841Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs201257644 2:179500777-179500777 2:178636050-178636050
47 TTN NM_001267550.2(TTN): c.107635C> T (p.Gln35879Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs757082154 2:179392218-179392218 2:178527491-178527491
48 TTN NM_001267550.2(TTN): c.29245C> T (p.Gln9749Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs746721983 2:179571356-179571356 2:178706629-178706629
49 COL6A2 NM_001849.3(COL6A2): c.2489G> A (p.Arg830Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs139552940 21:47551895-47551895 21:46131981-46131981
50 RYR1 NM_000540.2(RYR1): c.844C> T (p.Arg282Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs1057518970 19:38939038-38939038 19:38448398-38448398

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 extracellular exosome GO:0070062 9.97 UTRN TTN SERPINA3 RYR1 GAA DNM2
2 protein-containing complex GO:0032991 9.8 UTRN RYR1 DNM2 DMD COL6A1
3 Z disc GO:0030018 9.46 TTN SMN2 RYR1 DMD
4 I band GO:0031674 9.43 TTN RYR1
5 dystrophin-associated glycoprotein complex GO:0016010 9.32 UTRN DMD
6 filopodium membrane GO:0031527 9.26 UTRN DMD
7 sarcolemma GO:0042383 9.1 UTRN RYR1 DMD COL6A3 COL6A1 CLCN1
8 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 9.46 UTRN EMD DMD COL6A3
2 cardiac muscle contraction GO:0060048 9.43 TTN GAA DMD
3 growth plate cartilage chondrocyte morphogenesis GO:0003429 9.4 COL6A3 COL6A1
4 striated muscle contraction GO:0006941 9.37 TTN GAA
5 response to denervation involved in regulation of muscle adaptation GO:0014894 9.32 UTRN DMD
6 muscle cell cellular homeostasis GO:0046716 9.13 TRIM32 GAA DMD
7 muscle contraction GO:0006936 9.1 UTRN 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 myosin binding GO:0017022 9.16 TRIM32 DMD
2 nitric-oxide synthase binding GO:0050998 8.96 DNM2 DMD
3 vinculin binding GO:0017166 8.62 UTRN DMD

Sources for Muscular Disease

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
55 Novoseek
58 OMIM via Orphanet
62 PubMed
71 Tocris
73 UMLS via Orphanet
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