MCID: MYP004
MIFTS: 67

Myopathy malady

Categories: Muscle diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Myopathy

Summaries for Myopathy

NINDS : 51 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:: characterized by developmental delays in motor skills; skeletal and facial abnormalities are occasionally evident at birth: characterized by progressive weakness in voluntary muscles; sometimes evident at birth: caused by genetic abnormalities in mitochondria, cellular structures that control energy; include Kearns-Sayre syndrome, MELAS and MERRF: caused by mutations in genes controlling enzymes that metabolize glycogen and glucose (blood sugar); include Pompe's, Andersen's and Cori's diseases: caused by disorders in the metabolism of a fuel (myoglobin) necessary for muscle work; include McArdle, Tarui, and DiMauro diseases: an inflammatory myopathy of skin and muscle: characterized by bone growing in muscle tissue: characterized by episodes of weakness in the arms and legs: inflammatory myopathies of skeletal muscle: characterized by alternating episodes of twitching and stiffness; and  characterized by episodes of rigidity and reflex spasms and characterized by prolonged spasms of the arms and legs

MalaCards based summary : Myopathy, also known as muscular diseases, is related to myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related and myopathy, congenital, with fiber-type disproportion, and has symptoms including back pain, leg cramps and muscle cramp. An important gene associated with Myopathy is MTM1 (Myotubularin 1), and among its related pathways/superpathways are Integrin Pathway and Cardiac conduction. The drugs Benzocaine and Entecavir have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, bone and skin, and related phenotypes are behavior/neurological and muscle

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

Wikipedia : 71 Myopathy is a disease of muscle in which the muscle fibers do not function properly. This results in... more...

Related Diseases for Myopathy

Diseases in the Myopathy family:

Congenital Myopathy Gne-Related Myopathy
Benign Autosomal Dominant Myopathy Selenon-Related Myopathy

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

(show top 50) (show all 761)
id Related Disease Score Top Affiliating Genes
1 myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related 33.4 ACTA1 CRYAB MYH7 MYOT
2 myopathy, congenital, with fiber-type disproportion 33.2 ACTA1 MYH7 RYR1 SELENON
3 muscular dystrophy, rigid spine, 1 32.8 ACTA1 COL6A2 DYSF MYH7 SELENON
4 ullrich congenital muscular dystrophy 1 32.4 COL6A1 COL6A2 COL6A3 DYSF
5 lethal congenital contracture syndrome 5 31.7 MTM1 RYR1
6 muscular dystrophy, limb-girdle, type 1b 31.1 COL6A1 COL6A2 COL6A3 SELENON
7 hypertonia 29.5 ACTA1 NEB
8 nemaline myopathy 12.3
9 myopathy, centronuclear 12.3
10 nemaline myopathy 3, autosomal dominant or recessive 12.2
11 cap myopathy 12.1
12 myosin storage myopathy 12.1
13 native american myopathy 12.1
14 myopathy, tubular aggregate, 1 12.1
15 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 12.1
16 neutral lipid storage disease with myopathy 12.1
17 myotubular myopathy, x-linked 12.1
18 congenital myopathy 12.1
19 nemaline myopathy 5, amish type 12.1
20 brody myopathy 12.1
21 nonaka myopathy 12.1
22 visceral myopathy 12.1
23 myofibrillar myopathy 12.0
24 idiopathic inflammatory myopathy 12.0
25 myopathy, centronuclear, autosomal recessive 12.0
26 mitochondrial myopathy and sideroblastic anemia 1 12.0
27 ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 12.0
28 myopathy, myofibrillar, 1 12.0
29 myopathy, areflexia, respiratory distress, and dysphagia, early-onset 12.0
30 liang distal myopathy 12.0
31 proximal myopathy and ophthalmoplegia 12.0
32 mitochondrial myopathy with lactic acidosis 12.0
33 myopathy with lactic acidosis, hereditary 12.0
34 bethlem myopathy 1 12.0
35 myopathy with extrapyramidal signs 12.0
36 myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay 12.0
37 welander distal myopathy 12.0
38 myopathy, congenital, compton-north 12.0
39 minicore myopathy with external ophthalmoplegia 12.0
40 nemaline myopathy 1, autosomal dominant or recessive 12.0
41 myopathy, spheroid body 12.0
42 nemaline myopathy 4, autosomal dominant 12.0
43 myopathy, myofibrillar, 2 12.0
44 lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency 12.0
45 myopathy, proximal, with early respiratory muscle involvement 12.0
46 myopathy, x-linked, with excessive autophagy 11.9
47 peripheral neuropathy, myopathy, hoarseness, and hearing loss 11.9
48 myopathy, isolated mitochondrial, autosomal dominant 11.9
49 nemaline myopathy 7, autosomal recessive 11.9
50 collagen vi-related myopathy 11.9

Comorbidity relations with Myopathy via Phenotypic Disease Network (PDN):


Acute Cystitis Bronchitis
Deficiency Anemia Heart Disease
Hypertension, Essential Hypothyroidism
Respiratory Failure

Graphical network of the top 20 diseases related to Myopathy:



Diseases related to Myopathy

Symptoms & Phenotypes for Myopathy

UMLS symptoms related to Myopathy:


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

MGI Mouse Phenotypes related to Myopathy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 ACTA1 CFL2 CRYAB DES DYSF GNE
2 muscle MP:0005369 9.5 DYSF GNE MTM1 MYH7 NEB PUS1

Drugs & Therapeutics for Myopathy

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

(show top 50) (show all 1096)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benzocaine Approved Phase 4,Phase 2,Phase 3,Phase 1 1994-09-7, 94-09-7 2337
2
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
3
Telbivudine Approved, Investigational Phase 4 3424-98-4 159269
4
Tenofovir Approved, Investigational Phase 4,Phase 2 147127-20-6 464205
5
Methylprednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Early Phase 1 83-43-2 6741
6
Prednisolone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Early Phase 1 50-24-8 5755
7
Etoricoxib Approved, Investigational Phase 4,Phase 3,Phase 1 202409-33-4 123619
8
Milnacipran Approved Phase 4,Phase 2,Phase 3,Phase 1 92623-85-3 65833
9
Amitriptyline Approved Phase 4,Phase 2,Phase 3,Phase 1 50-48-6 2160
10
Cyclobenzaprine Approved Phase 4,Phase 3,Phase 2 303-53-7 2895
11
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
12
Ramipril Approved Phase 4 87333-19-5 5362129
13
Acetylcholine Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 51-84-3 187
14
Sodium oxybate Approved Phase 4,Phase 3,Phase 2 502-85-2 5360545
15
Prednisone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 53-03-2 5865
16
Dinoprostone Approved Phase 4 363-24-6 5280360
17
Rocuronium Approved Phase 4,Phase 3,Phase 2,Phase 1 119302-91-9, 143558-00-3 441290
18
Succinylcholine Approved Phase 4,Phase 3,Phase 2 306-40-1 5314
19
Donepezil Approved Phase 4,Phase 3 120014-06-4 3152
20
Ursodeoxycholic acid Approved, Investigational Phase 4,Phase 1,Phase 2 128-13-2 31401
21 Moxonidine Approved Phase 4 75438-57-2 4810
22
Ranolazine Approved, Investigational Phase 4,Phase 2 142387-99-3, 95635-55-5 56959
23
Magnesium oxide Approved Phase 4 1309-48-4 14792
24
Bivalirudin Approved, Investigational Phase 4 128270-60-0 16129704
25
Eptifibatide Approved, Investigational Phase 4 188627-80-7 123610
26
Letrozole Approved, Investigational Phase 4,Phase 2 112809-51-5 3902
27
Methyltestosterone Approved Phase 4,Phase 3,Phase 2,Phase 1 58-18-4 6010
28
Testosterone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 58-22-0 6013
29
Paclitaxel Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 33069-62-4 36314
30 Trapidil Approved Phase 4 15421-84-8
31
Bezafibrate Approved Phase 4,Phase 3,Phase 2 41859-67-0 39042
32
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 137-58-6 3676
33
Polidocanol Approved Phase 4,Phase 2 9002-92-0
34
Menthol Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 2216-51-5 16666
35
Perphenazine Approved Phase 4,Phase 2,Phase 3,Phase 1 58-39-9 4748
36
Pregabalin Approved, Illicit, Investigational Phase 4,Phase 3,Phase 2,Phase 1 148553-50-8 5486971
37
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 51-61-6, 62-31-7 681
38
Norepinephrine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-41-2 439260
39
Acetaminophen Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 103-90-2 1983
40
Tramadol Approved, Investigational Phase 4,Phase 3,Phase 2 27203-92-5 33741
41
Naproxen Approved, Vet_approved Phase 4,Phase 1 22204-53-1 1302 156391
42
Etanercept Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 185243-69-0
43
Ibuprofen Approved Phase 4,Phase 3,Phase 2,Phase 1 15687-27-1 3672
44
Propranolol Approved, Investigational Phase 4,Phase 2,Phase 1 525-66-6 4946
45
Propofol Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 2078-54-8 4943
46
Baclofen Approved Phase 4,Phase 3,Phase 2,Phase 1 1134-47-0 2284
47
Bupivacaine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 2180-92-9, 38396-39-3 2474
48
Citalopram Approved Phase 4 59729-33-8 2771
49
Colchicine Approved Phase 4 64-86-8 6167 2833
50
Betamethasone Approved, Vet_approved Phase 4,Phase 3 378-44-9 9782

Interventional clinical trials:

(show top 50) (show all 5000)
id Name Status NCT ID Phase
1 Identification of Carnitine-Responsive Cardiomyopathy Unknown status NCT01904396 Phase 4
2 Efficacy of Telbivudine With or Without add-on Tenofovir According to Roadmap Strategy Compare With Entecavir Unknown status NCT01588912 Phase 4
3 Muscular Electrostimulation of the Sedated and Mechanically Ventilated Critically Ill Patient. Analysis of the Effect on Acquired Muscular Weakness and Its Clinical Consequences. Unknown status NCT02033057 Phase 4
4 A Randomized Trial to Evaluate the Effectiveness of Transferring the Flexor Hallucis Longus Tendon Unknown status NCT01341509 Phase 4
5 6-Methyl-Prednisolone for Multiple Organ Dysfunction Syndrome Unknown status NCT00127985 Phase 4
6 Study Assessing the Efficacy of Etoricoxib in Female Patients With Fibromyalgia Unknown status NCT00755521 Phase 4
7 Study of Fibromyalgia Treated With Milnacipran Unknown status NCT01125423 Phase 4
8 The Study of Using Esophageal Pressure to Guide the PEEP Setting in Abdominal Hypertension Patients Who Undergoing Mechanical Ventilation Unknown status NCT01825304 Phase 4
9 Cyclobenzaprine Extended Release (ER) for Fibromyalgia Unknown status NCT01041495 Phase 4
10 Ramipril Versus Carvedilol in Duchenne and Becker Patients Unknown status NCT00819845 Phase 4
11 Effects of Exercise Training on Systemic Inflammation an Muscle Repair According to the Obstructive Chronic Pulmonary Disease (COPD) Phenotype Unknown status NCT01431625 Phase 4
12 The Preventive Efficacy of Carvedilol on Cardiac Dysfunction in Duchenne Muscular Dystrophy Unknown status NCT00606775 Phase 4
13 Antispastic Effect of Transcranial Magnetic Stimulation in Patients With Cerebral and Spinal Spasticity Unknown status NCT01786005 Phase 4
14 Upper Extremity Rehabilitation Using Robot and Botulinum Toxin Unknown status NCT02228863 Phase 4
15 Immune Response After Human Papillomavirus Vaccination in Patients With Autoimmune Disease Unknown status NCT00815282 Phase 4
16 Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases Unknown status NCT01151644 Phase 4
17 Evaluation of the Effects of L-Carnitine Injection in Patients Undergoing Hemodialysis Unknown status NCT00173706 Phase 4
18 Nasal Continuous Positive Airway Pressure (CPAP) in Chronic Fatigue and Sleep-disordered Breathing Unknown status NCT01368718 Phase 4
19 The Efficacy and Safety of MEDITOXIN® in Children With Cerebral Palsy Unknown status NCT01256021 Phase 4
20 Sodium Oxybate in Patients With Chronic Fatigue Syndrome. Unknown status NCT01584934 Phase 4
21 Steroids Pharmacokinetics and the Response to Prednisone Therapy in Giant Cell Arteritis Unknown status NCT01400464 Phase 4
22 Use of Sildenafil (Viagra) to Alter Fatigue, Functional Status and Impaired Cerebral Blood Flow in Patients With CFS Unknown status NCT00598585 Phase 4
23 The Immune and Clinical Impacts of Vitamin D in Patients With Chronic Musculo-skeletal Pain Unknown status NCT01417923 Phase 4
24 Aliskiren and Muscle Sympathetic Nerve Activity Unknown status NCT00719316 Phase 4
25 Comparison of Surgical Conditions in Cesarean Section Under General Anesthesia With Deep Neuromuscular Blockade Versus Succinylcholine Unknown status NCT01941628 Phase 4
26 The Use of Botox in Advanced Parkinson's Patients Experiencing Pain Unknown status NCT02472210 Phase 4
27 Effects of an Exercise Program in Patients With Hypertensive Chronic Kidney Disease Unknown status NCT01155128 Phase 4
28 CPAP for Infantile Pompe Disease Unknown status NCT02405624 Phase 4
29 The Effect of Donepezil on Gait and Balance in Parkinson's Disease Unknown status NCT01521117 Phase 4
30 Botulinum A Toxin in Patients With Parkinson's Disease Unknown status NCT00822913 Phase 4
31 The Effects of AST-120 on Endothelial Dysfunction in Patients With Chronic Kidney Disease Unknown status NCT01157260 Phase 4
32 Efficacy and Safety of Ursodeoxycholic Acid (UDCA) Added to the DPP-4 Inhibitor in People With Type 2 Diabetes and Chronic Liver Diseases Unknown status NCT01337440 Phase 4
33 Sympathetic Nervous System Inhibition for the Treatment of Diabetic Kidney Disease Unknown status NCT01094769 Phase 4
34 Effect of Ranolazine on Valvular Disease in Patients With Pacemakers Unknown status NCT01979965 Phase 4
35 Influence of Profound Muscle Relaxation on Muscle Trauma and Postoperative Pulmonary Function Unknown status NCT01804933 Phase 4
36 Efficacy Study of Botox for Depression Unknown status NCT01556971 Phase 4
37 Magnesium in Liver Cirrhosis Unknown status NCT01894867 Phase 4
38 Peri-Procedural Myocardial Infarction, Platelet Reactivity, Thrombin Generation, and Clot Strength: Differential Effects of Eptifibatide + Bivalirudin Versus Bivalirudin Unknown status NCT00370045 Phase 4
39 Inspiratory Muscle Training in Patients With Autonomic Neuropathic Unknown status NCT00752440 Phase 4
40 Effects of Botulinum Toxin Type A(Meditoxin®) on Sleep Bruxism Unknown status NCT01336439 Phase 4
41 Evaluation of Predictive Factors Regarding the Effectivity of Aromatase Inhibitor Therapy (PreFace) Unknown status NCT01908556 Phase 4
42 Inspiratory Muscle Training in Patients With End Stage Renal Failure Unknown status NCT01347775 Phase 4
43 Testosterone Replacement in Older Men and Atherosclerosis Progression Unknown status NCT00287586 Phase 4
44 Effect of Doxium on High Sensitivity CRP and Endothelin-1 Serum Levels in Patients With Diabetic Retinopathy Unknown status NCT01382498 Phase 4
45 Optical Coherence Tomography (OCT) Evaluation of Re-endothelization: A Comparison of the Intrepide™ Stent Versus Taxus™ Unknown status NCT00914420 Phase 4
46 Differences in Atorvastatin Metabolite Ratios as a Diagnostic Tool in Detecting Atorvastatin Induced Myotoxicity Completed NCT00199745 Phase 4
47 The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM) Completed NCT01527318 Phase 4
48 Association Between Systemic Exposure of Atorvastatin and Metabolites and Atorvastatin-induced Myotoxicity Completed NCT00120055 Phase 4
49 Investigations on Differences in Atorvastatin Metabolites Ratios as a Diagnostic Tool in Detecting Atorvastatin Induced Myotoxicity Completed NCT00414531 Phase 4
50 Using Clonidine to Improve Leg Weakness in People With Heart Failure Completed NCT00858845 Phase 4

Search NIH Clinical Center for Myopathy

Cochrane evidence based reviews: muscular diseases

Genetic Tests for Myopathy

Genetic tests related to Myopathy:

id Genetic test Affiliating Genes
1 Myopathy 29

Anatomical Context for Myopathy

MalaCards organs/tissues related to Myopathy:

39
Skeletal Muscle, Bone, Skin, Brain, Heart, Lung, Testes

Publications for Myopathy

Articles related to Myopathy:

(show top 50) (show all 3037)
id Title Authors Year
1
Craniofacial Manifestations in Severe Nemaline Myopathy. ( 28134641 )
2017
2
A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population. ( 28295036 )
2017
3
Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion. ( 27816943 )
2017
4
A limb-girdle myopathy phenotype of RUNX2 mutation in a patient with cleidocranial dysplasia: a case study and literature review. ( 28056872 )
2017
5
Myopathy and Less Frequent Complications of Cystinosis. ( 28343473 )
2017
6
Sporadic inclusion body myositis - a myodegenerative disease or an inflammatory myopathy. ( 28111778 )
2017
7
What is the third serological marker associated with immune-mediated necrotizing myopathy? ( 28067601 )
2017
8
A patient with slowly progressive adult-onset nemaline myopathy and novel compound heterozygous mutations in the nebulin gene. ( 28131200 )
2017
9
Risk of Colchicine-Associated Myopathy in Gout: Influence of Concomitant Use of Statin. ( 28065770 )
2017
10
Truncating mutations on myofibrillar myopathies causing genes as prevalent molecular explanations on patients with dilated cardiomyopathy. ( 28436997 )
2017
11
Rituximab in the treatment of inflammatory myopathies: a review. ( 27121778 )
2017
12
A novel dominant D109A CRYAB mutation in a family with myofibrillar myopathy affects I+B-crystallin structure. ( 27904835 )
2017
13
Family with Ehlers-Danlos syndrome (combined classic and vascular type) with rare presentation of progressive myopathy and unusual association of severe facial and trigeminal motor weakness. ( 28488622 )
2017
14
Pure myopathy with enlarged mitochondria associated to a new mutation in MTND2 gene. ( 28070494 )
2017
15
Ro52/TRIM21-deficient expression and function in different subsets of peripheral blood mononuclear cells is associated with a proinflammatory cytokine response in patients with idiopathic inflammatory myopathies. ( 27936488 )
2017
16
Persistence of myopathy in Cushing's syndrome: evaluation of the German Cushing's Registry. ( 28325824 )
2017
17
ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy. ( 28058752 )
2017
18
Childhood autoimmune necrotizing myopathy with anti-signal recognition particle antibodies. ( 28076900 )
2017
19
Homozygous LIPE mutation in siblings with multiple symmetric lipomatosis, partial lipodystrophy, and myopathy. ( 27862896 )
2017
20
Acute large bowel pseudo-obstruction due to atrophic visceral myopathy: A case report. ( 28285209 )
2017
21
Inflammatory myopathy in a patient with Aicardi-GoutiA"res syndrome. ( 28089741 )
2017
22
Rare myopathy associated to MGUS, causing heart failure and responding to chemotherapy. ( 28058489 )
2017
23
Anti-HMGCR necrotizing myopathy masquerading as a muscular dystrophy in a child. ( 28066895 )
2017
24
Review of Critical Illness Myopathy and Neuropathy. ( 28042370 )
2017
25
Adult-onset Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke (MELAS)-like Encephalopathy Diagnosed Based on the Complete Sequencing of Mitochondrial DNA Extracted from Biopsied Muscle without any Myopathic Changes. ( 28050007 )
2017
26
Muscle weakness in respiratory and peripheral skeletal muscles in a mouse model for nebulin-based nemaline myopathy. ( 27890461 )
2017
27
Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases. ( 28490364 )
2017
28
A mutation in the TMEM65 gene results in mitochondrial myopathy with severe neurological manifestations. ( 28295037 )
2017
29
Craniofacial Manifestations in Severe Nemaline Myopathy. ( 28468212 )
2017
30
Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis? ( 28053302 )
2017
31
Comparison of serum rAAV serotype-specific antibodies in patients with Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Inclusion Body Myositis or GNE myopathy. ( 28042944 )
2017
32
The PTPN22 gene is associated with idiopathic inflammatory myopathy. ( 27312665 )
2017
33
Congenital myopathy results from misregulation of a muscle Ca2+ channel by mutant Stac3. ( 28003463 )
2017
34
Novel STAC3 Mutations in the First Non-Amerindian Patient with Native American Myopathy. ( 28411587 )
2017
35
A Mutation in the ACTA1 gene Manifesting Nemaline Myopathy with Central Nervous System Lesions. ( 28516742 )
2017
36
Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy. ( 28017374 )
2017
37
Sarcomere Dysfunction in Nemaline Myopathy. ( 28436394 )
2017
38
[Retraction] Clinical, pathological and genetic characteristics of autosomal dominant inherited dynaminA 2 centronuclear myopathy. ( 27176730 )
2016
39
Recessive Mutation in a Nuclear-Encoded Mitochondrial tRNA Synthetase Associated With Infantile Cataract, Congenital Neurotrophic Keratitis, and Orbital Myopathy. ( 27078007 )
2016
40
Thigh magnetic resonance imaging for the evaluation of disease activity in patients with idiopathic inflammatory myopathies followed in a single center. ( 27279002 )
2016
41
Isaacs' syndrome with overlapping myopathy as the first manifestation of AL amyloidosis. ( 27699467 )
2016
42
Fever, Myositis, and Paralysis: Is This Inflammatory Myopathy or Neuroinvasive Disease? ( 27119037 )
2016
43
Critical illness myopathy in a cervical spine-injured patient. ( 28053761 )
2016
44
Treatment with ActRIIB-mFc Produces Myofiber Growth and Improves Lifespan in the Acta1 H40Y Murine Model of Nemaline Myopathy. ( 27102768 )
2016
45
Early Onset of Diabetes Mellitus Accelerates Cognitive Decline in Japanese Patients with Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes. ( 27063563 )
2016
46
Investigation into the cause of mortality in 49 cases of idiopathic inflammatory myopathy: A single center study. ( 26998007 )
2016
47
Elevated risk of venous thromboembolic events in patients with inflammatory myopathies. ( 27350751 )
2016
48
Autoantibodies in adult patients with idiopathic inflammatory myopathies in Buenos Aires. ( 27295700 )
2016
49
Surgical treatment of megaduodenum in familial visceral myopathy - report of a case and review of the literature. ( 27410460 )
2016
50
Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC. ( 27633507 )
2016

Variations for Myopathy

ClinVar genetic disease variations for Myopathy:

6 (show all 19)
id Gene Variation Type Significance SNP ID Assembly Location
1 TRIM32 NM_001099679.1(TRIM32): c.1459G> A (p.Asp487Asn) single nucleotide variant Pathogenic rs111033570 GRCh37 Chromosome 9, 119461480: 119461480
2 RAPSN NM_005055.4(RAPSN): c.490C> T (p.Arg164Cys) single nucleotide variant Pathogenic/Likely pathogenic rs104894294 GRCh37 Chromosome 11, 47469405: 47469405
3 MT-TP m.15990C> T single nucleotide variant Pathogenic rs199474699 GRCh37 Chromosome MT, 15990: 15990
4 MT-TQ m.4369_4370insA duplication Pathogenic rs199476140 GRCh37 Chromosome MT, 4369: 4369
5 TTN NM_133378.4(TTN): c.25513C> T (p.Gln8505Ter) single nucleotide variant Pathogenic rs746721983 GRCh38 Chromosome 2, 178706629: 178706629
6 ACADVL NM_000018.3(ACADVL): c.1376G> A (p.Arg459Gln) single nucleotide variant Pathogenic/Likely pathogenic rs751995154 GRCh37 Chromosome 17, 7127330: 7127330
7 TTN NM_001267550.2(TTN): c.42486_42489delTTGT (p.Cys14163Asnfs) deletion Pathogenic rs797046064 GRCh38 Chromosome 2, 178634010: 178634013
8 TTN NM_001267550.2(TTN): c.23903_23904delGCinsA (p.Gly7968Glufs) indel Pathogenic rs797046060 GRCh38 Chromosome 2, 178719588: 178719589
9 COL6A3 NM_004369.3(COL6A3): c.6181C> T (p.Arg2061Ter) single nucleotide variant Pathogenic rs797045479 GRCh38 Chromosome 2, 237361150: 237361150
10 RYR1 NM_000540.2(RYR1): c.1878_1882delTGGCC (p.Gly627Terfs) deletion Pathogenic rs797045931 GRCh38 Chromosome 19, 38457583: 38457587
11 RYR1 NM_000540.2(RYR1): c.2505delG (p.Pro836Leufs) deletion Pathogenic rs797045932 GRCh38 Chromosome 19, 38460519: 38460519
12 RYR1 NM_000540.2(RYR1): c.3381+1G> A single nucleotide variant Pathogenic rs797045934 GRCh38 Chromosome 19, 38467813: 38467813
13 RYR1 NM_000540.2(RYR1): c.8724C> A (p.Tyr2908Ter) single nucleotide variant Pathogenic rs797045935 GRCh38 Chromosome 19, 38506860: 38506860
14 COL6A1 NM_001848.2(COL6A1): c.1003-2A> G single nucleotide variant Pathogenic rs797045477 GRCh38 Chromosome 21, 45990771: 45990771
15 COL6A3 NM_004369.3(COL6A3): c.9193C> T (p.Gln3065Ter) single nucleotide variant Pathogenic rs886043992 GRCh37 Chromosome 2, 238243305: 238243305
16 COL6A2 NM_001849.3(COL6A2): c.1751delC (p.Pro584Leufs) deletion Pathogenic rs886044398 GRCh37 Chromosome 21, 47544815: 47544815
17 COL6A2 NM_001849.3(COL6A2): c.1458+1G> A single nucleotide variant Pathogenic rs886044526 GRCh37 Chromosome 21, 47541038: 47541038
18 TTN NM_001267550.2(TTN): c.74567G> A (p.Trp24856Ter) single nucleotide variant Pathogenic rs1057518851 GRCh37 Chromosome 2, 179436292: 179436292
19 DMD NM_004006.2(DMD): c.5699T> G (p.Leu1900Ter) single nucleotide variant Pathogenic rs1057518866 GRCh37 Chromosome X, 32361291: 32361291

Copy number variations for Myopathy from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 244935 9 1 49000000 Copy number GNE Myopathy

Expression for Myopathy

Search GEO for disease gene expression data for Myopathy.

GO Terms for Myopathy

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 actin cytoskeleton GO:0015629 9.76 ACTA1 CFL2 MYOT NEB
2 collagen trimer GO:0005581 9.65 COL6A1 COL6A2 COL6A3
3 myofibril GO:0030016 9.58 MYH2 MYH7 NEB
4 sarcomere GO:0030017 9.56 ACTA1 MYH2 MYH7 NEB
5 muscle myosin complex GO:0005859 9.52 MYH2 MYH7
6 myosin filament GO:0032982 9.51 MYH2 MYH7
7 contractile fiber GO:0043292 9.49 DES NEB
8 I band GO:0031674 9.46 CFL2 CRYAB MTM1 RYR1
9 cardiac myofibril GO:0097512 9.43 CRYAB DES
10 Z disc GO:0030018 9.43 CFL2 CRYAB DES MYH7 MYOT NEB
11 collagen type VI trimer GO:0005589 9.32 COL6A1 COL6A3
12 sarcolemma GO:0042383 9.1 COL6A1 COL6A2 COL6A3 DES DYSF MYOT
13 extracellular exosome GO:0070062 10.11 ACTA1 CFL2 COL6A1 COL6A2 COL6A3 CRYAB

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

(show all 12)
id Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.63 COL6A3 CRYAB NEB
2 skeletal muscle contraction GO:0003009 9.51 MYH7 TNNT1
3 collagen catabolic process GO:0030574 9.5 COL6A1 COL6A2 COL6A3
4 muscle filament sliding GO:0030049 9.5 ACTA1 DES MYH2 MYH7 NEB TNNT1
5 muscle cell cellular homeostasis GO:0046716 9.49 CFL2 MTM1
6 intermediate filament organization GO:0045109 9.48 DES MTM1
7 protein heterotrimerization GO:0070208 9.43 COL6A1 COL6A2
8 plasma membrane repair GO:0001778 9.4 DYSF MYH2
9 cellular response to caffeine GO:0071313 9.37 RYR1 SELENON
10 skeletal muscle fiber development GO:0048741 9.33 ACTA1 RYR1 SELENON
11 muscle contraction GO:0006936 9.28 ACTA1 CRYAB DES DYSF MYH2 MYH7
12 transition between fast and slow fiber GO:0014883 9.26 MYH7 TNNT1

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

id Name GO ID Score Top Affiliating Genes
1 microfilament motor activity GO:0000146 9.16 MYH2 MYH7
2 structural constituent of muscle GO:0008307 9.13 MYOT NEB TPM2
3 actin binding GO:0003779 9.02 MYH2 MYH7 MYOT NEB TPM2

Sources for Myopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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