Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
MCID: MSC033
MIFTS: 50

Muscle Disorders

Categories: Muscle diseases, Neuronal diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Muscle Disorders

About this section

MalaCards integrated aliases for Muscle Disorders:

Name: Muscle Disorders 38 43
Myopathy 73

Classifications:

MalaCards categories:
Anatomical: Neuronal diseases Muscle diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

UMLS 73 C0026848
Sources

Summaries for Muscle Disorders

About this section
MedlinePlus : 43 Your muscles help you move and help your body work. Different types of muscles have different jobs. There are many problems that can affect muscles. Muscle disorders can cause weakness, pain or even paralysis. Causes of muscle disorders include Injury or overuse, such as sprains or strains, cramps or tendinitis A genetic disorder, such as muscular dystrophy Some cancers Inflammation, such as myositis Diseases of nerves that affect muscles Infections Certain medicines Sometimes the cause is not known.

MalaCards based summary : Muscle Disorders, also known as myopathy, is related to myopathy, congenital and congenital fiber-type disproportion, and has symptoms including muscle weakness, myoclonus and back pain. An important gene associated with Muscle Disorders is CLCN1 (Chloride Voltage-Gated Channel 1), and among its related pathways/superpathways are Focal Adhesion and Cardiac conduction. The drugs Benzocaine and Entecavir have been mentioned in the context of this disorder. Affiliated tissues include Placenta, skeletal muscle and heart, and related phenotype is muscle.

Sources

Related Diseases for Muscle Disorders

About this section

Diseases in the Muscle Disorders family:

Ano5-Related Muscle Diseases

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

(show top 50) (show all 82)
# Related Disease Score Top Affiliating Genes
1 myopathy, congenital 31.1 RYR1 SELENON TPM3
2 congenital fiber-type disproportion 30.9 RYR1 SELENON TPM3
3 myopathy, proximal, and ophthalmoplegia 30.8 COL6A1 COL6A2 RYR1
4 central core disease of muscle 30.7 RYR1 RYR2 SELENON
5 myopathy 29.7 CAV3 COL6A1 COL6A2 COL6A3 RYR1 SELENON
6 hypokalemic periodic paralysis, type 1 29.2 CLCN1 RYR1
7 muscular dystrophy 28.5 CAV3 COL6A1 COL6A2 COL6A3 MIR206 PIK3C2A
8 myotonia congenita, autosomal dominant 10.6
9 miyoshi muscular dystrophy 1 10.6
10 myotonia congenita, autosomal recessive 10.6
11 myopathy, x-linked, with excessive autophagy 10.6
12 myopathy, vacuolar, with casq1 aggregates 10.6
13 malignant hyperthermia 1 10.5
14 inclusion body myositis 10.5
15 myopathy, centronuclear, 1 10.5
16 myopathy, distal, 1 10.5
17 normokalemic periodic paralysis 10.5
18 stormorken syndrome 10.5
19 thyrotoxic periodic paralysis 1 10.5
20 muscular dystrophy, limb-girdle, autosomal recessive 5 10.5
21 myopathy, centronuclear, 2 10.5
22 nemaline myopathy 2 10.5
23 fingerprint body myopathy 10.5
24 myopathy, centronuclear, x-linked 10.5
25 nemaline myopathy 6 10.5
26 nemaline myopathy 1 10.5
27 nemaline myopathy 4 10.5
28 neutral lipid storage disease with myopathy 10.5
29 myopathy, centronuclear, 3 10.5
30 myopathy, centronuclear, 4 10.5
31 nemaline myopathy 8 10.5
32 nemaline myopathy 9 10.5
33 myopathy, centronuclear, 5 10.5
34 muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue 10.5
35 myopathy, scapulohumeroperoneal 10.5
36 myopathy, distal, 5 10.5
37 myopathy, myofibrillar, 7 10.5
38 myopathy, centronuclear, 6, with fiber-type disproportion 10.5
39 multifocal motor neuropathy 10.5
40 left ventricular noncompaction 10.5
41 reducing body myopathy 10.5
42 foot drop 10.5
43 lambert-eaton myasthenic syndrome 10.4
44 myositis 10.3
45 multiminicore disease 10.2 RYR1 SELENON
46 brody myopathy 10.2 CLCN1 RYR1
47 familial periodic paralysis 10.2 CLCN1 RYR1
48 myotonic disease 10.2 CLCN1 MIR206
49 congenital structural myopathy 10.1 RYR1 SELENON TPM3
50 myopathy, congenital, with fiber-type disproportion 10.1 RYR1 SELENON TPM3

Graphical network of the top 20 diseases related to Muscle Disorders:



Diseases related to Muscle Disorders
Sources

Symptoms & Phenotypes for Muscle Disorders

About this section

UMLS symptoms related to Muscle Disorders:


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

MGI Mouse Phenotypes related to Muscle Disorders:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.23 CAV3 CLCN1 COL6A1 COL6A3 RYR1 RYR2
Sources

Drugs & Therapeutics for Muscle Disorders

About this section

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

(show top 50) (show all 786)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 94-09-7, 1994-09-7 2337
2
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
3 tannic acid Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
4
Telbivudine Approved, Investigational Phase 4 3424-98-4 159269
5
Pirfenidone Approved, Investigational Phase 4 53179-13-8 40632
6
Prednisolone phosphate Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 302-25-0
7
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 50-24-8 5755
8
Methylprednisolone hemisuccinate Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 2921-57-5
9
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1 83-43-2 6741
10
Naltrexone Approved, Investigational, Vet_approved Phase 4,Phase 2,Not Applicable 16590-41-3 5360515
11
Milnacipran Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 92623-85-3 65833
12
Etoricoxib Approved, Investigational Phase 4,Phase 3,Phase 1 202409-33-4 123619
13
Ramipril Approved Phase 4 87333-19-5 5362129
14
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
15
Amitriptyline Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 50-48-6 2160
16
Cyclobenzaprine Approved Phase 4,Phase 3,Phase 2,Not Applicable 303-53-7 2895
17
Acetylcholine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 51-84-3 187
18
gamma-Aminobutyric acid Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 56-12-2 119
19
Gabapentin Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 60142-96-3 3446
20
Perphenazine Approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 58-39-9 4748
21
Triamcinolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 124-94-7 31307
22
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable,Early Phase 1 137-58-6 3676
23
Sodium oxybate Approved Phase 4,Phase 3,Phase 2 502-85-2 5360545
24
Dinoprostone Approved Phase 4,Not Applicable 363-24-6 5280360
25
Prednisone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 53-03-2 5865
26
Bezafibrate Approved, Investigational Phase 4,Phase 3,Phase 2 41859-67-0 39042
27
Simvastatin Approved Phase 4,Phase 3,Phase 2,Not Applicable 79902-63-9 54454
28
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 50-02-2 5743
29
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 1177-87-3
30
Polidocanol Approved Phase 4,Phase 2 9002-92-0
31
Pregabalin Approved, Illicit, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 148553-50-8 5486971
32
Dopamine Approved Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1 51-61-6, 62-31-7 681
33
Norepinephrine Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 51-41-2 439260
34
Tramadol Approved, Investigational Phase 4,Phase 3,Phase 2 27203-92-5 33741
35
Acetaminophen Approved Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1 103-90-2 1983
36
Ibuprofen Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 15687-27-1 3672
37
Propranolol Approved, Investigational Phase 4,Phase 2,Phase 1,Not Applicable 525-66-6 4946
38
Propofol Approved, Investigational, Vet_approved Phase 4,Not Applicable 2078-54-8 4943
39
Baclofen Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 1134-47-0 2284
40
Azathioprine Approved Phase 4,Not Applicable 446-86-6 2265
41
Colchicine Approved Phase 4,Phase 3,Not Applicable 64-86-8 6167 2833
42
Betamethasone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable 378-44-9 9782
43
Hyaluronic acid Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1,Not Applicable 9004-61-9 53477741
44
Ethanol Approved Phase 4,Phase 3,Phase 1,Not Applicable,Early Phase 1 64-17-5 702
45
Dronabinol Approved, Illicit Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 1972-08-3 16078
46
Doxycycline Approved, Investigational, Vet_approved Phase 4,Not Applicable 564-25-0 54671203
47
Citalopram Approved Phase 4,Phase 3,Not Applicable 59729-33-8 2771
48
Abatacept Approved Phase 4,Phase 3,Phase 2,Early Phase 1 332348-12-6 10237
49
Ropivacaine Approved Phase 4,Not Applicable 84057-95-4 175805 71273
50
Nitroglycerin Approved, Investigational Phase 4,Phase 2,Not Applicable 55-63-0 4510

Interventional clinical trials:

(show top 50) (show all 3066)
# Name Status NCT ID Phase Drugs
1 Identification of Carnitine-Responsive Cardiomyopathy Unknown status NCT01904396 Phase 4 Carnitine
2 Efficacy of Telbivudine With or Without add-on Tenofovir According to Roadmap Strategy Compare With Entecavir Unknown status NCT01588912 Phase 4 Telbivudine;Tenofovir;Entecavir
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 Pirfenidone in Progressive Interstitial Lung Disease Associated With Clinically Amyopathic Dermatomyositis Unknown status NCT02821689 Phase 4 Pirfenidone
5 6-Methyl-Prednisolone for Multiple Organ Dysfunction Syndrome Unknown status NCT00127985 Phase 4 6-methyl-prednisolone
6 A Randomized Trial to Evaluate the Effectiveness of Transferring the Flexor Hallucis Longus Tendon Unknown status NCT01341509 Phase 4
7 Low Dose Naltrexone for Treatment of Pain in Patients With Fibromyalgia - Effect Via a Central Mechanism? Unknown status NCT02806440 Phase 4 Low dose naltrexone;Placebo
8 Study of Fibromyalgia Treated With Milnacipran Unknown status NCT01125423 Phase 4 Milnacipran
9 Study Assessing the Efficacy of Etoricoxib in Female Patients With Fibromyalgia Unknown status NCT00755521 Phase 4 etoricoxib
10 The Study of Using Esophageal Pressure to Guide the PEEP Setting in Abdominal Hypertension Patients Who Undergoing Mechanical Ventilation Unknown status NCT01825304 Phase 4
11 Ramipril Versus Carvedilol in Duchenne and Becker Patients Unknown status NCT00819845 Phase 4 carvedilol;ramipril
12 The Preventive Efficacy of Carvedilol on Cardiac Dysfunction in Duchenne Muscular Dystrophy Unknown status NCT00606775 Phase 4 Carvedilol
13 Cyclobenzaprine Extended Release (ER) for Fibromyalgia Unknown status NCT01041495 Phase 4 cyclobenzaprine ER (AMRIX);placebo
14 Meditoxin® Treatment in Patients With Post Stroke Upper Limb Spasticity Unknown status NCT02757404 Phase 4
15 Prospective, Cross Over Gabapentin vs Amitriptyline Study on Patients Suffering From Masticatory Muscle Pain Unknown status NCT02339662 Phase 4 Gabapentin;Amitriptyline
16 Upper Extremity Rehabilitation Using Robot and Botulinum Toxin Unknown status NCT02228863 Phase 4
17 Corticosteroid Injection Verses High Energy Extracorporeal Shock Wave Therapy for Lateral Epicondylitis Unknown status NCT02613455 Phase 4 Kenalog (triamcinolone);lidocaine 1% (lidocaine HCl 20mg)
18 The Effectiveness of Early Botulinum Toxin A Injection for Lower Limbs Spasticity in Subacute Stroke Adults Unknown status NCT02505802 Phase 4 BoNT-A injection
19 Effects of Functional Electrical Stimulation on Gait in Children With Cerebral Palsy Unknown status NCT02462018 Phase 4
20 Sodium Oxybate in Patients With Chronic Fatigue Syndrome. Unknown status NCT01584934 Phase 4 Sodium oxybate;Placebo
21 Optimal Dose of Extracorporeal Shock Wave Therapy After Botulinum Toxin Type A Injection for Post-stroke Spasticity Unknown status NCT02358005 Phase 4
22 Evaluation of the Effects of L-Carnitine Injection in Patients Undergoing Hemodialysis Unknown status NCT00173706 Phase 4 L-Carnitine Injection
23 Rectus Femoris Tenotomy Versus Botulinum Toxin A for Stiff Knee Gait After Stroke Unknown status NCT02114736 Phase 4 Botulinum Toxin injection in the rectus femoris muscle
24 The Efficacy and Safety of MEDITOXIN® in Children With Cerebral Palsy Unknown status NCT01256021 Phase 4 Botulinum Toxin Type A
25 Antispastic Effect of Transcranial Magnetic Stimulation in Patients With Cerebral and Spinal Spasticity Unknown status NCT01786005 Phase 4
26 The Immune and Clinical Impacts of Vitamin D in Patients With Chronic Musculo-skeletal Pain Unknown status NCT01417923 Phase 4 vitamin D
27 Steroids Pharmacokinetics and the Response to Prednisone Therapy in Giant Cell Arteritis Unknown status NCT01400464 Phase 4 Prednisone therapy and pharmacokinetic
28 Nasal Continuous Positive Airway Pressure (CPAP) in Chronic Fatigue and Sleep-disordered Breathing Unknown status NCT01368718 Phase 4
29 Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases Unknown status NCT01151644 Phase 4
30 The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM) Completed NCT01527318 Phase 4 Fibrate treatment
31 Differences in Atorvastatin Metabolite Ratios as a Diagnostic Tool in Detecting Atorvastatin Induced Myotoxicity Completed NCT00199745 Phase 4 atorvastatin
32 Association Between Systemic Exposure of Atorvastatin and Metabolites and Atorvastatin-induced Myotoxicity Completed NCT00120055 Phase 4 Atorvastatin (Lipitor)
33 Investigations on Differences in Atorvastatin Metabolites Ratios as a Diagnostic Tool in Detecting Atorvastatin Induced Myotoxicity Completed NCT00414531 Phase 4 Atorvastatin
34 Using Clonidine to Improve Leg Weakness in People With Heart Failure Completed NCT00858845 Phase 4 Clonidine Patch
35 Two Different Dosages of Nebulized Steroid Versus Parenteral Steroid in the Management of COPD Exacerbations Completed NCT01865500 Phase 4 Budesonide 4 mg;Budesonide 8 mg;Metil prednisolone
36 Effects of Vitamin D Supplementation in Obesity Completed NCT01037140 Phase 4 Cholecalciferol;placebo
37 Effect of Gemfibrozil on the Safety and Pharmacokinetics of Red Yeast Rice in Healthy Subjects Completed NCT01385020 Phase 4 Gemfibrozil & red yeast rice (LipoCol)
38 Early Goal-Directed Nutrition in ICU Patients - EAT-ICU Trial Completed NCT01372176 Phase 4
39 Effect of Goserelin (Zoladex®) in Spinal and Bulbar Muscular Atrophy Completed NCT00851461 Phase 4 Goserelin
40 Assessing the Role of "Statin" Therapy and Perioperative Inflammatory Response in Patients Undergoing Major Orthopedic Surgery Completed NCT00656292 Phase 4 Simvastatin;Placebo
41 Relation Between Intrabdominal Pressure and Collapsibility Index of Inferior Vena Cava Before and After Fluid Therapy Completed NCT01553422 Phase 4
42 Long Term Effectiveness of Trigger Finger Injections With Triamcinolone vs. Dexamethasone Completed NCT03641508 Phase 4 Triamcinolone;Dexamethasone
43 Shockwave Therapy of Chronic Achilles Tendinopathy Completed NCT00958620 Phase 4
44 "NSAIDs in Acute Achilles Tendinopathy: Effect on Pain Control, Leg Stiffness and Functional Recovery in Athletes" Completed NCT00792376 Phase 4 etoricoxib;diclofenac
45 The Value of Platelet-Rich Plasma in Chronic Midportion Achilles Tendinopathy: a Double-blind Randomized Clinical Trial Completed NCT00761423 Phase 4
46 Achilles Tendinosis Study; Comparison of Radiofrequency to Surgical MicroDebridement Completed NCT00534781 Phase 4
47 The Efficacy of Polidocanol Injections as a Treatment of Chronic Achilles. Tendinopathy Completed NCT00377910 Phase 4 Aethoxysclerol
48 Colloids in Severe Trauma Completed NCT00890383 Phase 4 tetrastarch (Voluven)
49 Discomfort and Psychosocial Difficulties in Fibromyalgia Completed NCT02078791 Phase 4 Botox infiltration
50 Strengthening Exercises for Fibromyalgia Completed NCT02063750 Phase 4

Search NIH Clinical Center for Muscle Disorders

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Muscle Disorders cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Muscle Disorders:
PLX-PAD, placental-derived mesenchymal-like stromal cells for muscle disorders
Embryonic/Adult Cultured Cells Related to Muscle Disorders:
Placenta-derived adherent stromal cell (PLX) PMIDs: 18154467 19478280
Sources

Genetic Tests for Muscle Disorders

About this section
Sources

Anatomical Context for Muscle Disorders

About this section

MalaCards organs/tissues related to Muscle Disorders:

41
Skeletal Muscle, Heart, Eye, Smooth Muscle, Testes, Thyroid, Breast
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Muscle Disorders:
# Tissue Anatomical CompartmentCell Relevance
1 Placenta Chorionic Villus Chorionic Mesenchymal Stromal Cells Potential therapeutic candidate
Sources

Publications for Muscle Disorders

About this section

Articles related to Muscle Disorders:

(show top 50) (show all 749)
# Title Authors Year
1
Evolving Role of PET/CT-MRI in Assessing Muscle Disorders. ( 30420223 )
2019
2
Suspected capture myopathy in an alpaca (Vicugna pacos) following a dog attack. ( 30296388 )
2019
3
Seronegative patients form a distinctive subgroup of immune-mediated necrotizing myopathy. ( 30345336 )
2019
4
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders. ( 29435569 )
2018
5
MR Imaging of Atraumatic Muscle Disorders. ( 29451848 )
2018
6
Zidovudine-induced lactic acidosis with acute pancreatitis and myopathy: Lethal and rare complications. ( 30505059 )
2018
7
AL amyloidosis presenting with limb girdle myopathy. ( 30042220 )
2018
8
A case of transthyretin amyloidosis with myopathy, neuropathy, and cardiomyopathy resulting from an exceedingly rare mutation transthyretin Ala120Ser (c.418G > T, p.Ala140Ser). ( 30039724 )
2018
9
Interstitial lung disease and inflammatory myopathy in antisynthetase syndrome with PL-12 antibody. ( 30323103 )
2018
10
Idiopathic Inflammatory Myopathy and Antisynthetase Syndrome: Early Diagnosis by 99mTc-HDP Bone Scintigraphy. ( 30325823 )
2018
11
Radiologic Findings in Polyarticular Amyloid Arthropathy and Myopathy in Multiple Myeloma: A Case Report. ( 30470733 )
2018
12
Native T1 mapping as a biomarker of underlying ventricular myopathy and its reversal in patients with atrial fibrillation and preserved ejection fraction undergoing catheter ablation. ( 30291916 )
2018
13
Inflammatory myopathy and autoimmune hepatitis in a patient with a flare of systemic lupus erythematosus: An exceptional association. ( 30071929 )
2018
14
Targeted overexpression of catalase to mitochondria does not prevent cardioskeletal myopathy in Barth syndrome. ( 30008435 )
2018
15
Successful Management of a Patient With X-Linked Myotubular Myopathy for Scoliosis Surgery and Previous Cardiac Arrest After Prone Positioning: A Case Report. ( 29634567 )
2018
16
An integrated modelling methodology for estimating the prevalence of centronuclear myopathy. ( 30122513 )
2018
17
A novel SPEG mutation causes non-compaction cardiomyopathy and neuropathy in a floppy infant with centronuclear myopathy. ( 30157964 )
2018
18
Non-compaction cardiomyopathy and early respiratory failure in an adult symptomatic female carrier of centronuclear myopathy caused by a MTM1 mutation. ( 30241883 )
2018
19
Reducing dynamin 2 (DNM2) rescues DNM2-related dominant centronuclear myopathy. ( 30291191 )
2018
20
BAG3 mutation in a patient with atypical phenotypes of myofibrillar myopathy and Charcot-Marie-Tooth disease. ( 30145633 )
2018
21
ACTG2-Associated Visceral Myopathy With Chronic Intestinal Pseudoobstruction, Intestinal Malrotation, Hypertrophic Pyloric Stenosis, Choledochal Cyst, and a Novel Missense Mutation. ( 30019982 )
2018
22
Proctalgia and constipation secondary to hypertrophic polyglucosan inclusion body myopathy of the internal anal sphincter: a case report. ( 30352617 )
2018
23
Cytoplasmic body myopathy revisited. ( 30253894 )
2018
24
Autoantibody to transcriptional intermediary factor-1β as a myositis-specific antibody: clinical correlation with clinically amyopathic dermatomyositis or dermatomyositis with mild myopathy. ( 30120913 )
2018
25
Amish nemaline myopathy and dilated cardiomyopathy caused by a homozygous contiguous gene deletion of TNNT1 and TNNI3 in a Mennonite child. ( 30395933 )
2018
26
Congenital myopathy with fiber-type disproportion accompanied by dilated cardiomyopathy in a patient with a novel p.G48A ACTA1 mutation. ( 30195123 )
2018
27
Chronic sarcoid myopathy manifesting only as dysphagia and dysarthria in an 84-year-old woman. ( 30086429 )
2018
28
Dysphagia secondary to focal inflammatory myopathy and consequent dorsiflexion of the tongue in a dog. ( 29355995 )
2018
29
Emery-Dreifuss muscular dystrophy-related myopathy with TMEM43 mutations. ( 30311943 )
2018
30
Lipid Storage Myopathy with Ketonuria: A Case of Fatty Acid Oxidation-Related Myopathy and Encephalopathy due to Multiple Acyl-CoA Dehydrogenase Deficiency. ( 30271477 )
2018
31
Phenotypic expression of a novel desmin gene mutation: hypertrophic cardiomyopathy followed by systemic myopathy. ( 29167554 )
2018
32
Prevalence and clinical correlates of rheumatoid factor and anticitrullinated protein antibodies in patients with idiopathic inflammatory myopathy. ( 30116555 )
2018
33
Rapid Progression of Heart Failure in a Patient with Idiopathic Inflammatory Myopathy. ( 30221193 )
2018
34
Histological heterogeneity in a large clinical cohort of juvenile idiopathic inflammatory myopathy: analysis by myositis autoantibody and pathological features. ( 30378704 )
2018
35
CD4+CXCR4+ T cells as a novel prognostic biomarker in patients with idiopathic inflammatory myopathy-associated interstitial lung disease. ( 30508148 )
2018
36
Exploring Road of Classification Criteria for Idiopathic Inflammatory Myopathy. ( 30511678 )
2018
37
Development of Necrotizing Myopathy Following Interstitial Lung Disease with Anti-signal Recognition Particle Antibody. ( 29491298 )
2018
38
Correction to: ADAM-17 is expressed in the inflammatory myopathy and is involved with interstitial lung disease. ( 29525842 )
2018
39
The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2. ( 30026338 )
2018
40
PTBP1 acts as a dominant repressor of the aberrant tissue-specific splicing of ISCU in hereditary myopathy with lactic acidosis. ( 30209894 )
2018
41
Characterization of gene regulation and protein interaction networks for Matrin 3 encoding mutations linked to amyotrophic lateral sclerosis and myopathy. ( 29511296 )
2018
42
Novel PNPLA2 gene mutation in a child causing neutral lipid storage disease with myopathy. ( 30223778 )
2018
43
Neutral lipid storage disease with myopathy and dropped head syndrome. Report of a new variant susceptible of treatment with late diagnosis. ( 30352762 )
2018
44
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility. ( 30168660 )
2018
45
Perturbed Redox Signaling Exacerbates a Mitochondrial Myopathy. ( 30122554 )
2018
46
Modulation of the de novo purine nucleotide pathway as a therapeutic strategy in mitochondrial myopathy. ( 30267763 )
2018
47
Deoxyguanosine kinase mutation producing juvenile-onset mitochondrial myopathy. ( 30283818 )
2018
48
Rapamycin rescues mitochondrial myopathy via coordinated activation of autophagy and lysosomal biogenesis. ( 30309855 )
2018
49
Mitochondrial complex IV deficiency caused by a novel frameshift variant in MT-CO2 associated with myopathy and perturbed acylcarnitine profile. ( 30315213 )
2018
50
Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy. ( 30452684 )
2018
Sources

Variations for Muscle Disorders

About this section
Sources

Expression for Muscle Disorders

About this section
Search GEO for disease gene expression data for Muscle Disorders.
Sources

Pathways for Muscle Disorders

About this section

Pathways related to Muscle Disorders according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Focal Adhesion 1 37
Show member pathways
 12.52 CAV3 COL6A1 COL6A2 COL6A3
2
Cardiac conduction 66
Show member pathways
 12.35 CAV3 RYR1 RYR2 TPM3
3
G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins 22
Show member pathways
 11.84 COL6A1 COL6A2 COL6A3 PRG2
4
ECM-receptor interaction 37
Show member pathways
 11.61 COL6A1 COL6A2 COL6A3
5
Smooth Muscle Contraction 66
10.92 CAV3 TPM3
6
miRNA targets in ECM and membrane receptors 1
10.77 COL6A1 COL6A2 COL6A3
7
G-protein signaling_Rap2B regulation pathway 22
10.61 COL6A1 COL6A2 COL6A3 PRG2
8
NCAM1 interactions 66
10.37 COL6A1 COL6A2 COL6A3
9
Cell-type Dependent Selectivity of CCK2R Signaling 1
10.27 RYR1 RYR2
Sources

GO Terms for Muscle Disorders

About this section

Cellular components related to Muscle Disorders according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 9.8 CAV3 COL6A1 COL6A2 RYR1 RYR2
2 extracellular exosome GO:0070062 9.76 COL6A1 COL6A2 COL6A3 ENO3 PIK3C2A PRG2
3 collagen-containing extracellular matrix GO:0062023 9.62 COL6A1 COL6A2 COL6A3 PRG2
4 Z disc GO:0030018 9.61 CAV3 RYR1 RYR2
5 collagen trimer GO:0005581 9.54 COL6A1 COL6A2 COL6A3
6 sarcoplasmic reticulum membrane GO:0033017 9.49 RYR1 RYR2
7 smooth endoplasmic reticulum GO:0005790 9.48 RYR1 RYR2
8 calcium channel complex GO:0034704 9.46 RYR1 RYR2
9 junctional sarcoplasmic reticulum membrane GO:0014701 9.26 RYR1 RYR2
10 sarcolemma GO:0042383 9.17 CAV3 CLCN1 COL6A1 COL6A2 COL6A3 RYR1
11 collagen type VI trimer GO:0005589 8.96 COL6A1 COL6A3

Biological processes related to Muscle Disorders according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.7 COL6A1 COL6A2 COL6A3
2 release of sequestered calcium ion into cytosol GO:0051209 9.55 RYR1 RYR2
3 regulation of cardiac conduction GO:1903779 9.54 RYR1 RYR2
4 regulation of heart rate GO:0002027 9.51 CAV3 RYR2
5 skeletal muscle fiber development GO:0048741 9.49 RYR1 SELENON
6 skeletal muscle tissue regeneration GO:0043403 9.48 ENO3 SELENON
7 regulation of cardiac muscle contraction GO:0055117 9.46 CAV3 RYR2
8 muscle contraction GO:0006936 9.46 CAV3 CLCN1 RYR1 TPM3
9 ventricular cardiac muscle cell action potential GO:0086005 9.43 CAV3 RYR2
10 positive regulation of myotube differentiation GO:0010831 9.4 CAV3 MIR206
11 protein heterotrimerization GO:0070208 9.37 COL6A1 COL6A2
12 response to caffeine GO:0031000 9.32 RYR1 RYR2
13 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.26 RYR1 RYR2
14 growth plate cartilage chondrocyte morphogenesis GO:0003429 9.13 COL6A1 COL6A2 COL6A3
15 cellular response to caffeine GO:0071313 8.8 RYR1 RYR2 SELENON

Molecular functions related to Muscle Disorders according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium-release channel activity GO:0015278 9.26 RYR1 RYR2
2 calcium-induced calcium release activity GO:0048763 9.16 RYR1 RYR2
3 ryanodine-sensitive calcium-release channel activity GO:0005219 8.96 RYR1 RYR2
4 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.8 COL6A1 COL6A2 COL6A3
Sources

Sources for Muscle Disorders

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z