MCID: MSC033
MIFTS: 53

Muscle Disorders

Categories: Neuronal diseases, Muscle diseases

Aliases & Classifications for Muscle Disorders

Summaries for Muscle Disorders

MedlinePlus : 40 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 central core disease of muscle, and has symptoms including joint symptom, myalgia and musculoskeletal symptom. An important gene associated with Muscle Disorders is CLCN1 (Chloride Voltage-Gated Channel 1), and among its related pathways/superpathways are Cardiac conduction and G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins. The drugs Benzocaine and Entecavir have been mentioned in the context of this disorder. Affiliated tissues include Placenta, testes and brain, and related phenotype is muscle.

Related Diseases for Muscle Disorders

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

(show top 50) (show all 72)
# Related Disease Score Top Affiliating Genes
1 myopathy, congenital 31.0 RYR1 SELENON TPM3
2 central core disease of muscle 30.7 RYR1 RYR2 SELENON
3 congenital fiber-type disproportion 30.7 RYR1 SELENON TPM3
4 myopathy, proximal, and ophthalmoplegia 30.3 COL6A1 COL6A2 RYR1
5 muscular dystrophy, congenital, lmna-related 28.5 COL6A1 COL6A2 COL6A3 SELENON
6 muscular dystrophy 28.0 CAV3 COL6A1 COL6A2 COL6A3 SELENON
7 myopathy 27.9 CAV3 CLCN1 COL6A1 COL6A2 COL6A3 PIK3C2A
8 myotonia congenita, autosomal dominant 10.5
9 miyoshi muscular dystrophy 1 10.5
10 myotonia congenita, autosomal recessive 10.5
11 myopathy, x-linked, with excessive autophagy 10.5
12 myopathy, vacuolar, with casq1 aggregates 10.5
13 malignant hyperthermia 1 10.4
14 myopathy, centronuclear, 1 10.4
15 myopathy, distal, 1 10.4
16 normokalemic periodic paralysis 10.4
17 stormorken syndrome 10.4
18 thyrotoxic periodic paralysis 1 10.4
19 muscular dystrophy, limb-girdle, type 2c 10.4
20 myopathy, centronuclear, 2 10.4
21 fingerprint body myopathy 10.4
22 myopathy, centronuclear, x-linked 10.4
23 nemaline myopathy 6 10.4
24 nemaline myopathy 1 10.4
25 nemaline myopathy 4 10.4
26 neutral lipid storage disease with myopathy 10.4
27 myopathy, centronuclear, 3 10.4
28 myopathy, centronuclear, 4 10.4
29 nemaline myopathy 8 10.4
30 nemaline myopathy 9 10.4
31 myopathy, centronuclear, 5 10.4
32 muscular dystrophy, limb-girdle, type 2x 10.4
33 muscular dystrophy, limb-girdle, type 2w 10.4
34 myopathy, scapulohumeroperoneal 10.4
35 myopathy, distal, 5 10.4
36 myopathy, myofibrillar, 7 10.4
37 multifocal motor neuropathy 10.4
38 left ventricular noncompaction 10.4
39 reducing body myopathy 10.4
40 foot drop 10.4
41 multiminicore disease 10.3 RYR1 SELENON
42 lambert-eaton myasthenic syndrome 10.2
43 arrhythmogenic right ventricular dysplasia, familial, 2 10.2 RYR1 RYR2
44 metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 10.2 PIK3C2A RYR1
45 congenital structural myopathy 10.2 RYR1 SELENON TPM3
46 myotonic disease 10.2 CLCN1 MIR206 RYR1
47 cardiac conduction defect 10.2 RYR1 RYR2
48 myopathy, congenital, with fiber-type disproportion 10.2 RYR1 SELENON TPM3
49 central core myopathy 10.1 RYR1 RYR2 SELENON
50 familial periodic paralysis 10.1 CLCN1 RYR1

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



Diseases related to Muscle Disorders

Symptoms & Phenotypes for Muscle Disorders

UMLS symptoms related to Muscle Disorders:


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

MGI Mouse Phenotypes related to Muscle Disorders:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.23 CAV3 CLCN1 COL6A1 COL6A3 RYR1 RYR2

Drugs & Therapeutics for Muscle Disorders

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

(show top 50) (show all 752)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benzocaine Approved, Investigational Phase 4,Phase 3,Phase 2,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
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 83-43-2 6741
5
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 50-24-8 5755
6
Milnacipran Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 92623-85-3 65833
7
Etoricoxib Approved, Investigational Phase 4,Phase 3,Phase 1 202409-33-4 123619
8
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
9
Ramipril Approved Phase 4 87333-19-5 5362129
10
Amitriptyline Approved Phase 4,Phase 2,Phase 3,Phase 1 50-48-6 2160
11
Cyclobenzaprine Approved Phase 4,Phase 3,Phase 2 303-53-7 2895
12
Gabapentin Approved, Investigational Phase 4,Phase 3,Phase 2 60142-96-3 3446
13
gamma-Aminobutyric acid Approved, Investigational Phase 4,Phase 3,Phase 2 56-12-2 119
14
Perphenazine Approved Phase 4,Phase 2,Phase 3,Phase 1 58-39-9 4748
15
Acetylcholine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-84-3 187
16
Lidocaine Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 137-58-6 3676
17
Triamcinolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 124-94-7 31307
18
Sodium oxybate Approved Phase 4,Phase 3,Phase 2 502-85-2 5360545
19
Dinoprostone Approved Phase 4 363-24-6 5280360
20
Prednisone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 53-03-2 5865
21
Bezafibrate Approved, Investigational Phase 4,Phase 3,Phase 2 41859-67-0 39042
22
Polidocanol Approved Phase 4,Phase 2 9002-92-0
23
Menthol Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 2216-51-5 16666
24
Pregabalin Approved, Illicit, Investigational Phase 4,Phase 2,Phase 3,Phase 1 148553-50-8 5486971
25
Dopamine Approved Phase 4,Phase 3,Phase 2,Early Phase 1 51-61-6, 62-31-7 681
26
Norepinephrine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-41-2 439260
27
Acetaminophen Approved Phase 4,Phase 3,Phase 2,Early Phase 1 103-90-2 1983
28
Tramadol Approved, Investigational Phase 4,Phase 3,Phase 2 27203-92-5 33741
29
Ibuprofen Approved Phase 4,Phase 3,Phase 2,Phase 1 15687-27-1 3672
30
Propranolol Approved, Investigational Phase 4,Phase 2,Phase 1 525-66-6 4946
31
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
32
Baclofen Approved Phase 4,Phase 3,Phase 2,Phase 1 1134-47-0 2284
33
Azathioprine Approved Phase 4 446-86-6 2265
34
Betamethasone Approved, Vet_approved Phase 4,Phase 3,Phase 2 378-44-9 9782
35
Hyaluronic acid Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 9004-61-9 53477741 24759
36
Colchicine Approved Phase 4 64-86-8 2833 6167
37
Dronabinol Approved, Illicit Phase 4,Phase 3,Phase 2,Phase 1 1972-08-3 16078 2978
38
Ethanol Approved Phase 4,Phase 3,Phase 1,Early Phase 1 64-17-5 702
39
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
40
Citalopram Approved Phase 4 59729-33-8 2771
41
Abatacept Approved Phase 4,Phase 3,Phase 2,Early Phase 1 332348-12-6 10237
42
Nitroglycerin Approved, Investigational Phase 4,Phase 2 55-63-0 4510
43
Cortisone acetate Approved, Investigational Phase 4 1950-04-4, 50-04-4 5745
44
Simvastatin Approved Phase 4,Phase 3,Phase 2 79902-63-9 54454
45
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-02-2 5743
46
Clonidine Approved Phase 4,Phase 3,Phase 2,Phase 1 4205-90-7 2803
47
Budesonide Approved Phase 4 51333-22-3 5281004 63006
48
Gemfibrozil Approved Phase 4 25812-30-0 3463
49
Goserelin Approved Phase 4 65807-02-5 5311128 47725
50
Diclofenac Approved, Vet_approved Phase 4,Phase 3,Phase 2 15307-86-5 3033

Interventional clinical trials:

(show top 50) (show all 2635)

# 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 6-Methyl-Prednisolone for Multiple Organ Dysfunction Syndrome Unknown status NCT00127985 Phase 4 6-methyl-prednisolone
5 A Randomized Trial to Evaluate the Effectiveness of Transferring the Flexor Hallucis Longus Tendon Unknown status NCT01341509 Phase 4
6 Study of Fibromyalgia Treated With Milnacipran Unknown status NCT01125423 Phase 4 Milnacipran
7 Study Assessing the Efficacy of Etoricoxib in Female Patients With Fibromyalgia Unknown status NCT00755521 Phase 4 etoricoxib
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 Ramipril Versus Carvedilol in Duchenne and Becker Patients Unknown status NCT00819845 Phase 4 carvedilol;ramipril
10 The Preventive Efficacy of Carvedilol on Cardiac Dysfunction in Duchenne Muscular Dystrophy Unknown status NCT00606775 Phase 4 Carvedilol
11 Cyclobenzaprine Extended Release (ER) for Fibromyalgia Unknown status NCT01041495 Phase 4 cyclobenzaprine ER (AMRIX);placebo
12 Prospective, Cross Over Gabapentin vs Amitriptyline Study on Patients Suffering From Masticatory Muscle Pain Unknown status NCT02339662 Phase 4 Gabapentin;Amitriptyline
13 Upper Extremity Rehabilitation Using Robot and Botulinum Toxin Unknown status NCT02228863 Phase 4
14 Corticosteroid Injection Verses High Energy Extracorporeal Shock Wave Therapy for Lateral Epicondylitis Unknown status NCT02613455 Phase 4 Kenalog (triamcinolone);lidocaine 1% (lidocaine HCl 20mg)
15 Nasal Continuous Positive Airway Pressure (CPAP) in Chronic Fatigue and Sleep-disordered Breathing Unknown status NCT01368718 Phase 4
16 The Effectiveness of Early Botulinum Toxin A Injection for Lower Limbs Spasticity in Subacute Stroke Adults Unknown status NCT02505802 Phase 4 BoNT-A injection
17 Effects of Functional Electrical Stimulation on Gait in Children With Cerebral Palsy Unknown status NCT02462018 Phase 4
18 Optimal Dose of Extracorporeal Shock Wave Therapy After Botulinum Toxin Type A Injection for Post-stroke Spasticity Unknown status NCT02358005 Phase 4
19 Sodium Oxybate in Patients With Chronic Fatigue Syndrome. Unknown status NCT01584934 Phase 4 Sodium oxybate;Placebo
20 Evaluation of the Effects of L-Carnitine Injection in Patients Undergoing Hemodialysis Unknown status NCT00173706 Phase 4 L-Carnitine Injection
21 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
22 The Efficacy and Safety of MEDITOXIN® in Children With Cerebral Palsy Unknown status NCT01256021 Phase 4 Botulinum Toxin Type A
23 Antispastic Effect of Transcranial Magnetic Stimulation in Patients With Cerebral and Spinal Spasticity Unknown status NCT01786005 Phase 4
24 The Immune and Clinical Impacts of Vitamin D in Patients With Chronic Musculo-skeletal Pain Unknown status NCT01417923 Phase 4 vitamin D
25 Steroids Pharmacokinetics and the Response to Prednisone Therapy in Giant Cell Arteritis Unknown status NCT01400464 Phase 4 Prednisone therapy and pharmacokinetic
26 Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases Unknown status NCT01151644 Phase 4
27 The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM) Completed NCT01527318 Phase 4 Fibrate treatment
28 Differences in Atorvastatin Metabolite Ratios as a Diagnostic Tool in Detecting Atorvastatin Induced Myotoxicity Completed NCT00199745 Phase 4 atorvastatin
29 Association Between Systemic Exposure of Atorvastatin and Metabolites and Atorvastatin-induced Myotoxicity Completed NCT00120055 Phase 4 Atorvastatin (Lipitor)
30 Investigations on Differences in Atorvastatin Metabolites Ratios as a Diagnostic Tool in Detecting Atorvastatin Induced Myotoxicity Completed NCT00414531 Phase 4 Atorvastatin
31 Using Clonidine to Improve Leg Weakness in People With Heart Failure Completed NCT00858845 Phase 4 Clonidine Patch
32 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
33 Effects of Vitamin D Supplementation in Obesity Completed NCT01037140 Phase 4 Cholecalciferol;placebo
34 Effect of Gemfibrozil on the Safety and Pharmacokinetics of Red Yeast Rice in Healthy Subjects Completed NCT01385020 Phase 4 Gemfibrozil & red yeast rice (LipoCol)
35 Early Goal-Directed Nutrition in ICU Patients - EAT-ICU Trial Completed NCT01372176 Phase 4
36 Effect of Goserelin (Zoladex®) in Spinal and Bulbar Muscular Atrophy Completed NCT00851461 Phase 4 Goserelin
37 Relation Between Intrabdominal Pressure and Collapsibility Index of Inferior Vena Cava Before and After Fluid Therapy Completed NCT01553422 Phase 4
38 Shockwave Therapy of Chronic Achilles Tendinopathy Completed NCT00958620 Phase 4
39 "NSAIDs in Acute Achilles Tendinopathy: Effect on Pain Control, Leg Stiffness and Functional Recovery in Athletes" Completed NCT00792376 Phase 4 etoricoxib;diclofenac
40 The Value of Platelet-Rich Plasma in Chronic Midportion Achilles Tendinopathy: a Double-blind Randomized Clinical Trial Completed NCT00761423 Phase 4
41 Achilles Tendinosis Study; Comparison of Radiofrequency to Surgical MicroDebridement Completed NCT00534781 Phase 4
42 The Efficacy of Polidocanol Injections as a Treatment of Chronic Achilles. Tendinopathy Completed NCT00377910 Phase 4 Aethoxysclerol
43 Colloids in Severe Trauma Completed NCT00890383 Phase 4 tetrastarch (Voluven)
44 Discomfort and Psychosocial Difficulties in Fibromyalgia Completed NCT02078791 Phase 4 Botox infiltration
45 Strengthening Exercises for Fibromyalgia Completed NCT02063750 Phase 4
46 Heart Rate Variability in Fibromyalgia - Effects of Strengthening Exercises Completed NCT02004405 Phase 4
47 Quetiapine Compared With Placebo in the Management of Fibromyalgia Completed NCT01458964 Phase 4 Quetiapine
48 Effect of Milnacipran on Pain in Fibromyalgia Completed NCT01288807 Phase 4 Milnacipram
49 Fixed Versus Flexible Dosing of Pregabalin in Patients With Fibromyalgia Completed NCT01226667 Phase 4 Pregabalin
50 A Study to Evaluate the Effects of Milnacipran on Pain Processing and Functional MRI in Patients With Fibromyalgia Completed NCT01173055 Phase 4 milnacipran;Placebo

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

Genetic Tests for Muscle Disorders

Anatomical Context for Muscle Disorders

MalaCards organs/tissues related to Muscle Disorders:

38
Testes, Brain, Spinal Cord, Heart, Skeletal Muscle, Bone, Liver
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

Publications for Muscle Disorders

Articles related to Muscle Disorders:

(show top 50) (show all 63)
# Title Authors Year
1
MR Imaging of Atraumatic Muscle Disorders. ( 29451848 )
2018
2
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders. ( 29435569 )
2018
3
Immunohistochemical analysis of canine and feline muscle disorders using formalin-fixed, paraffin-embedded tissues. ( 28599613 )
2017
4
Muscle disorders: FGF19 reduces muscle wasting. ( 28729723 )
2017
5
Fasciculations in nerve and muscle disorders - A prospective study of muscle ultrasound compared to electromyography. ( 29028499 )
2017
6
The potential of obscurin as a therapeutic target in muscle disorders. ( 28756711 )
2017
7
Faulty RNA splicing: consequences and therapeutic opportunities in brain and muscle disorders. ( 28434044 )
2017
8
Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencing. ( 26809617 )
2016
9
Mechanisms of Vascular Smooth Muscle Contraction and the Basis for Pharmacologic Treatment of Smooth Muscle Disorders. ( 27037223 )
2016
10
Targeted massively parallel sequencing and histological assessment of skeletal muscles for the molecular diagnosis of inherited muscle disorders. ( 27600705 )
2016
11
Skeletal muscle disorders of glycogenolysis and glycolysis. ( 27231184 )
2016
12
Next-generation sequencing approaches for the diagnosis of skeletal muscle disorders. ( 27454578 )
2016
13
Genetic muscle disorders study. ( 27039558 )
2016
14
The influence of psychological flexibility on life satisfaction and mood in muscle disorders. ( 27196863 )
2016
15
Novel treatment strategies for smooth muscle disorders: Targeting Kv7 potassium channels. ( 27179745 )
2016
16
Muscle disorders: Preventing diaphragm dysfunction. ( 27681795 )
2016
17
Deficiency Of I+-actinin-3 Is Associated With Increased Incidence Of On Indirect Muscle Disorders/Injuries In Elite Football Players.: 2617 Board #140 June 3, 9: 30 AM - 11: 00 AM. ( 27361253 )
2016
18
Taurine: the appeal of a safe amino acid for skeletal muscle disorders. ( 26208967 )
2015
19
Skeletal muscle perfusion and stem cell delivery in muscle disorders using intra-femoral artery canulation in mice. ( 26341268 )
2015
20
Regulating PPARI' Signaling as a Potential Therapeutic Strategy for Skeletal Muscle Disorders in Heart Failure. ( 25770240 )
2015
21
Editorial: Stem Cell-Based and Gene Therapy for Hereditary Muscle Disorders. ( 26206328 )
2015
22
203rd ENMC international workshop: Respiratory pathophysiology in congenital muscle disorders: Implications for pro-active care and clinical research 13-15 December, 2013, Naarden, The Netherlands. ( 25613806 )
2015
23
Common Creatine Kinase gene mutation results in falsely reassuring CK levels in muscle disorders. ( 26568611 )
2015
24
Influence of the MCT1 rs1049434 on Indirect Muscle Disorders/Injuries in Elite Football Players. ( 26478856 )
2015
25
Congenital muscular dystrophies: New evidence-based guidelines for the diagnosis and management of this evolving group of muscle disorders. ( 25900129 )
2015
26
Muscle disorders: Combating cachexia in cancer. ( 26471368 )
2015
27
K(V)7 potassium channels: a new therapeutic target in smooth muscle disorders. ( 24333708 )
2014
28
Human skeletal muscle xenograft as a new preclinical model for muscle disorders. ( 24452336 )
2014
29
Issues & Opinions - The potential of psychological interventions to improve quality of life and mood in muscle disorders. ( 25297932 )
2014
30
The Genetics of Skeletal Muscle Disorders in Horses. ( 25387114 )
2014
31
Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling. ( 24336167 )
2014
32
Incidence of skeletal muscle disorders after statins' treatment: consequences in clinical and EMG picture. ( 24878976 )
2014
33
Quetiapine and cardiac muscle disorders. ( 23951594 )
2013
34
Muscle disorders: the latest investigations. ( 24004391 )
2013
35
Proteomic identification of biomarkers of skeletal muscle disorders. ( 23387498 )
2013
36
Reining in nuclear factor-kappaB in skeletal muscle disorders. ( 23493016 )
2013
37
Nemaline myopathy in a newborn infant: a rare muscle disorder. ( 24166571 )
2013
38
One man's side effect is another man's therapeutic opportunity: targeting Kv7 channels in smooth muscle disorders. ( 22880633 )
2013
39
Creatine for treating muscle disorders. ( 23740606 )
2013
40
Masticatory muscle disorders diagnostic criteria: the American Academy of Orofacial Pain versus the research diagnostic criteria/temporomandibular disorders (RDC/TMD). ( 22882635 )
2012
41
Delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders: Thematic Review Series: Genetics of Human Lipid Diseases. ( 22065858 )
2012
42
Stem cell therapies for muscle disorders. ( 22918488 )
2012
43
Growing muscle has different sarcolemmal properties from adult muscle: a proposal with scientific and clinical implications: reasons to reassess skeletal muscle molecular dynamics, cellular responses and suitability of experimental models of muscle disorders. ( 21500235 )
2011
44
Genetic variability of transcript abundance in pig peri-mortem skeletal muscle: eQTL localized genes involved in stress response, cell death, muscle disorders and metabolism. ( 22053791 )
2011
45
Caveolinopathies: translational implications of caveolin-3 in skeletal and cardiac muscle disorders. ( 21496630 )
2011
46
Delay in diagnosis of muscle disorders depends on the subspecialty of the initially consulted physician. ( 21542919 )
2011
47
Creatine for treating muscle disorders. ( 21328269 )
2011
48
An internet-based system for home monitoring of respiratory muscle disorders. ( 21096291 )
2010
49
Eosinophilia-associated muscle disorders: an immunohistological study with tissue localisation of major basic protein in distinct clinicopathological forms. ( 19139036 )
2009
50
Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm. ( 18313359 )
2008

Variations for Muscle Disorders

Expression for Muscle Disorders

Search GEO for disease gene expression data for Muscle Disorders.

Pathways for Muscle Disorders

GO Terms for Muscle Disorders

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.81 COL6A1 COL6A2 COL6A3 ENO3 PIK3C2A PRG2
2 protein complex GO:0043234 9.77 CAV3 COL6A1 COL6A2 RYR1 RYR2
3 collagen trimer GO:0005581 9.5 COL6A1 COL6A2 COL6A3
4 T-tubule GO:0030315 9.46 CAV3 RYR1
5 sarcoplasmic reticulum membrane GO:0033017 9.43 RYR1 RYR2
6 smooth endoplasmic reticulum GO:0005790 9.4 RYR1 RYR2
7 junctional sarcoplasmic reticulum membrane GO:0014701 9.26 RYR1 RYR2
8 sarcolemma GO:0042383 9.02 CAV3 CLCN1 COL6A1 COL6A2 COL6A3
9 collagen type VI trimer GO:0005589 8.96 COL6A1 COL6A3

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

(show all 14)
# 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 9.54 RYR1 RYR2
3 regulation of cytosolic calcium ion concentration GO:0051480 9.51 RYR1 RYR2
4 regulation of heart rate GO:0002027 9.49 CAV3 RYR2
5 skeletal muscle fiber development GO:0048741 9.48 RYR1 SELENON
6 regulation of cardiac muscle contraction GO:0055117 9.46 CAV3 RYR2
7 positive regulation of myotube differentiation GO:0010831 9.43 CAV3 MIR206
8 ventricular cardiac muscle cell action potential GO:0086005 9.4 CAV3 RYR2
9 protein heterotrimerization GO:0070208 9.37 COL6A1 COL6A2
10 response to caffeine GO:0031000 9.32 RYR1 RYR2
11 cellular response to caffeine GO:0071313 9.26 RYR1 RYR2
12 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0014808 9.16 RYR1 RYR2
13 collagen catabolic process GO:0030574 9.13 COL6A1 COL6A2 COL6A3
14 muscle contraction GO:0006936 8.92 CAV3 CLCN1 RYR1 TPM3

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 9.16 RYR1 RYR2
2 calcium-induced calcium release activity GO:0048763 8.96 RYR1 RYR2
3 ryanodine-sensitive calcium-release channel activity GO:0005219 8.62 RYR1 RYR2

Sources for Muscle Disorders

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