MCID: MSC005
MIFTS: 67

Muscular Dystrophy

Categories: Bone diseases, Cardiovascular diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Muscular Dystrophy

MalaCards integrated aliases for Muscular Dystrophy:

Name: Muscular Dystrophy 12 74 20 53 58 29 6 42 3 15 71 32
Muscular Dystrophies 54 44 15
Dystrophy, Muscular 39

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:9884
MeSH 44 D009136
NCIt 50 C84910
SNOMED-CT 67 155095006
ICD10 32 G71.0
MESH via Orphanet 45 D009136
ICD10 via Orphanet 33 G71.0
UMLS via Orphanet 72 C0026850
Orphanet 58 ORPHA98473
UMLS 71 C0026850

Summaries for Muscular Dystrophy

NINDS : 53 The muscular dystrophies (MD) are a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in infancy or childhood, while others may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. Duchenne MD is the most common form of MD and primarily affects boys. It is caused by the absence of dystrophin, a protein involved in maintaining the integrity of muscle. Onset is between 3 and 5 years and the disorder progresses rapidly. Most boys are unable to walk by age 12, and later need a respirator to breathe. Girls in these families have a 50 percent chance of inheriting and passing the defective gene to their children. Boys with Becker MD (very similar to but less severe than Duchenne MD) have faulty or not enough dystrophin. Facioscapulohumeral MD usually begins in the teenage years. It causes progressive weakness in muscles of the face, arms, legs, and around the shoulders and chest. It progresses slowly and can vary in symptoms from mild to disabling. Myotonic MD is the disorder's most common adult form and is typified by prolonged muscle spasms, cataracts, cardiac abnormalities, and endocrine disturbances. Individuals with myotonic MD have long, thin faces, drooping eyelids, and a swan-like neck.

MalaCards based summary : Muscular Dystrophy, also known as muscular dystrophies, is related to muscular dystrophy, congenital, lmna-related and muscular dystrophy, limb-girdle, autosomal recessive 2, and has symptoms including myoclonus, back pain and torticollis. An important gene associated with Muscular Dystrophy is DMD (Dystrophin), and among its related pathways/superpathways are Allograft rejection and Degradation of the extracellular matrix. The drugs Carvedilol and Ramipril have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, eye and bone marrow, and related phenotypes are Decreased viability and Decreased viability

Disease Ontology : 12 A myopathy is characterized by progressive skeletal muscle weakness degeneration.

GARD : 20 Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medications including corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weakness or a pacemaker for cardiac (heart) abnormalities.

MedlinePlus : 42 Muscular dystrophy (MD) is a group of more than 30 inherited diseases. They all cause muscle weakness and muscle loss. Some forms of MD appear in infancy or childhood. Others may not appear until middle age or later. The different types can vary in whom they affect, which muscles they affect, and what the symptoms are. All forms of MD grow worse as the person's muscles get weaker. Most people with MD eventually lose the ability to walk. There is no cure for muscular dystrophy. Treatments can help with the symptoms and prevent complications. They include physical and speech therapy, orthopedic devices, surgery, and medications. Some people with MD have mild cases that worsen slowly. Others cases are disabling and severe. NIH: National Institute of Neurological Disorders and Stroke

CDC : 3 Muscular dystrophies are a group of genetic disorders that result in muscle weakness over time. Each type of muscular dystrophy is different from the others. It is important to get help as early as possible. Muscular dystrophy has no cure, but acting early may help an individual with muscular dystrophy get the services and treatments he or she needs to lead a full life.

Wikipedia : 74 Muscular dystrophy (MD) is a group of muscle diseases that results in increasing weakening and breakdown... more...

Related Diseases for Muscular Dystrophy

Diseases in the Muscular Dystrophy family:

Muscular Dystrophy, Congenital, 1b Muscular Dystrophy, Congenital, Lmna-Related
Congenital Muscular Dystrophy Due to Dystroglycanopathy Congenital Muscular Dystrophy Type 1a
Progressive Muscular Dystrophy

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

(show top 50) (show all 1125)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, congenital, lmna-related 34.6 TTN TCAP SGCB SELENON POMT2 PLEC
2 muscular dystrophy, limb-girdle, autosomal recessive 2 34.5 TTN TCAP SGCG SGCB SGCA POMT2
3 emery-dreifuss muscular dystrophy 34.5 TTN TCAP SGCG SGCB SGCA SELENON
4 muscular dystrophy, duchenne type 34.4 TTN TCAP SGCG SGCB SGCA LAMA2
5 muscular dystrophy, becker type 34.4 SGCG SGCB SGCA LAMA2 FKTN FKRP
6 facioscapulohumeral muscular dystrophy 1 34.3 SGCG SGCA LMNA FKRP DYSF DMD
7 limb-girdle muscular dystrophy 34.3 TTN TCAP SGCG SGCB SGCA PLEC
8 walker-warburg syndrome 34.3 SGCG SGCB SGCA SELENON POMT2 PLEC
9 ullrich congenital muscular dystrophy 1 34.3 SGCG SGCA SELENON LMNA LAMA2 FKTN
10 muscular dystrophy-dystroglycanopathy , type c, 5 34.3 TTN TCAP SGCG POMT2 LAMA2 FKTN
11 muscular dystrophy-dystroglycanopathy , type a, 4 34.2 SGCA POMT2 LAMA2 GMPPB FKTN FKRP
12 emery-dreifuss muscular dystrophy 2, autosomal dominant 34.1 TTN SELENON LMNA FKRP EMD DYSF
13 rigid spine muscular dystrophy 1 34.1 TTN SELENON LMNA LAMA2 FKTN FKRP
14 autosomal recessive limb-girdle muscular dystrophy 34.1 TTN TCAP SGCG SGCB SGCA POMT2
15 muscular dystrophy-dystroglycanopathy , type c, 1 34.0 SGCG SGCB POMT2 GMPPB FKTN FKRP
16 muscular dystrophy, congenital merosin-deficient, 1a 34.0 SGCG SGCA SELENON POMT2 LMNA LAMA2
17 bethlem myopathy 1 34.0 SGCG SGCA SELENON POMT2 LMNA LAMA2
18 tibial muscular dystrophy 34.0 TTN TCAP SGCG FKRP DYSF DMD
19 muscular dystrophy-dystroglycanopathy , type c, 2 34.0 POMT2 GMPPB FKTN FKRP CAPN3 ANO5
20 muscular dystrophy-dystroglycanopathy , type c, 4 34.0 POMT2 GMPPB FKTN FKRP DYSF CAPN3
21 muscular dystrophy, limb-girdle, autosomal dominant 2 33.9 TCAP SGCG SGCB LMNA FKRP DYSF
22 muscular dystrophy, limb-girdle, autosomal recessive 6 33.9 TTN TCAP SGCG SGCB SGCA FKRP
23 muscular dystrophy-dystroglycanopathy , type c, 3 33.9 POMT2 GMPPB FKTN FKRP ANO5
24 miyoshi muscular dystrophy 33.8 TTN TCAP SGCG SGCB SGCA FKRP
25 muscular dystrophy-dystroglycanopathy , type b, 5 33.8 POMT2 LAMA2 FKTN FKRP
26 muscular dystrophy-dystroglycanopathy , type c, 9 33.8 SGCB GMPPB DYSF
27 muscular dystrophy, limb-girdle, autosomal recessive 7 33.8 TTN TCAP FKRP DYSF DMD CAPN3
28 autosomal recessive limb-girdle muscular dystrophy type 2d 33.8 TCAP SGCG SGCB SGCA LMNA LAMA2
29 autosomal recessive limb-girdle muscular dystrophy type 2b 33.8 SGCG SGCB SGCA LMNA LAMA2 FKRP
30 autosomal recessive limb-girdle muscular dystrophy type 2a 33.8 TTN TCAP SGCG SGCB SGCA LMNA
31 muscular dystrophy, limb-girdle, autosomal recessive 8 33.8 TTN TCAP FKRP DYSF CAPN3
32 muscular dystrophy-dystroglycanopathy , type b, 6 33.8 POMT2 FKTN FKRP
33 muscular dystrophy, limb-girdle, autosomal recessive 4 33.7 TTN TCAP SGCB SGCA FKRP DYSF
34 autosomal recessive limb-girdle muscular dystrophy type 2c 33.7 TCAP SGCG SGCB SGCA LAMA2 FKRP
35 muscular dystrophy-dystroglycanopathy , type c, 7 33.7 GMPPB FKTN FKRP
36 muscular dystrophy-dystroglycanopathy , type c, 14 33.6 GMPPB ANO5
37 autosomal recessive limb-girdle muscular dystrophy type 2g 33.6 TTN TCAP SGCG SGCB SGCA FKRP
38 myopathy, myofibrillar, 1 33.6 TTN SELENON PLEC LMNA DYSF DMD
39 autosomal recessive limb-girdle muscular dystrophy type 2f 33.6 TCAP SGCG SGCB SGCA FKRP DYSF
40 muscular dystrophy-dystroglycanopathy 33.6 SGCB SGCA POMT2 LAMA2 GMPPB FKTN
41 myopathy 33.6 TTN TCAP SGCG SGCB SGCA SELENON
42 miyoshi muscular dystrophy 3 33.5 DYSF CAPN3 ANO5
43 autosomal recessive limb-girdle muscular dystrophy type 2l 33.5 SGCG SGCB SGCA POMT2 FKTN FKRP
44 autosomal recessive limb-girdle muscular dystrophy type 2h 33.5 TCAP SGCG SGCA FKRP DYSF CAPN3
45 myopathy, myofibrillar, 3 33.5 TTN TCAP PLEC DYSF DMD CAPN3
46 emery-dreifuss muscular dystrophy 5, autosomal dominant 33.5 POMT2 LMNA EMD
47 neuromuscular disease 33.5 TTN TCAP SGCG SGCB SGCA PABPN1
48 muscle eye brain disease 33.5 POMT2 LAMA2 GMPPB FKTN FKRP
49 muscular dystrophy-dystroglycanopathy , type a, 1 33.5 POMT2 FKTN FKRP
50 rigid spine muscular dystrophy 33.4 SELENON LMNA

Comorbidity relations with Muscular Dystrophy via Phenotypic Disease Network (PDN):


Acute Cystitis

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



Diseases related to Muscular Dystrophy

Symptoms & Phenotypes for Muscular Dystrophy

UMLS symptoms related to Muscular Dystrophy:


myoclonus, back pain, torticollis, sciatica, muscle cramp

GenomeRNAi Phenotypes related to Muscular Dystrophy according to GeneCards Suite gene sharing:

26 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.83 CAPN3
2 Decreased viability GR00055-A-2 9.83 CAPN3
3 Decreased viability GR00055-A-3 9.83 CAPN3
4 Decreased viability GR00221-A-2 9.83 TTN
5 Decreased viability GR00221-A-4 9.83 DYSF TTN
6 Decreased viability GR00240-S-1 9.83 LMNA TCAP
7 Decreased viability GR00249-S 9.83 COL6A2 FKTN LMNA POMT2 SGCA TCAP
8 Decreased viability GR00301-A 9.83 DYSF
9 Decreased viability GR00342-S-1 9.83 TTN
10 Decreased viability GR00342-S-3 9.83 TTN
11 Decreased viability GR00381-A-1 9.83 COL6A2 FKRP LAMA2 SGCA
12 Decreased viability GR00381-A-3 9.83 COL6A2
13 Decreased viability GR00386-A-1 9.83 LMNA POMT2
14 Decreased viability GR00402-S-2 9.83 DMD GMPPB PABPN1 POMT2 SELENON SGCA

MGI Mouse Phenotypes related to Muscular Dystrophy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.31 ANO5 COL6A2 DMD DYSF EMD FKRP
2 cellular MP:0005384 10.21 ANO5 DMD EMD FKRP FKTN LAMA2
3 cardiovascular system MP:0005385 10.18 ANO5 CAPN3 DMD EMD FKRP LMNA
4 growth/size/body region MP:0005378 10.17 ANO5 CAPN3 COL6A2 DMD FKRP FKTN
5 homeostasis/metabolism MP:0005376 10.16 ANO5 CAPN3 DMD DYSF EMD FKRP
6 immune system MP:0005387 9.9 ANO5 DMD DYSF FKRP FKTN LAMA2
7 muscle MP:0005369 9.89 ANO5 CAPN3 DMD DYSF EMD FKRP
8 normal MP:0002873 9.23 CAPN3 DMD FKRP LMNA PLEC SELENON

Drugs & Therapeutics for Muscular Dystrophy

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

(show top 50) (show all 214)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
2
Ramipril Approved Phase 4 87333-19-5 5362129
3
Alendronate Approved Phase 4 121268-17-5, 66376-36-1 2088
4
Risedronate Approved, Investigational Phase 4 105462-24-6 5245
5
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
6 Angiotensin-Converting Enzyme Inhibitors Phase 4
7 HIV Protease Inhibitors Phase 4
8
protease inhibitors Phase 4
9 Vasodilator Agents Phase 4
10 Adrenergic alpha-1 Receptor Antagonists Phase 4
11 Adrenergic alpha-Antagonists Phase 4
12 Hormones Phase 4
13 Vaccines Phase 4
14 Vitamins Phase 4
15 Calcium, Dietary Phase 4
16 calcium channel blockers Phase 4
17 Antibiotics, Antitubercular Phase 4
18 Anti-Bacterial Agents Phase 4
19 Diphosphonates Phase 4
20 Calciferol Phase 4
21
Calcium Nutraceutical Phase 4 7440-70-2 271
22
Enalaprilat Approved Phase 3 76420-72-9 6917719
23
Enalapril Approved, Vet_approved Phase 3 75847-73-3 5362032 40466924
24
Lisinopril Approved, Investigational Phase 2, Phase 3 83915-83-7, 76547-98-3 5362119
25
Metformin Approved Phase 3 657-24-9 14219 4091
26
Eplerenone Approved Phase 3 107724-20-9 150310 443872
27
Idebenone Approved, Investigational Phase 3 58186-27-9
28
Bisoprolol Approved Phase 2, Phase 3 66722-44-9 2405
29
Nebivolol Approved, Investigational Phase 3 152520-56-4, 118457-14-0, 99200-09-6 71301
30
Tamoxifen Approved Phase 3 10540-29-1 2733526
31
Tadalafil Approved, Investigational Phase 3 171596-29-5 110635
32
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 3 303-98-0 5281915
33
Epigallocatechin Experimental, Investigational Phase 2, Phase 3 970-74-1 72277
34
Epigallocatechin gallate Investigational Phase 2, Phase 3 989-51-5 65064
35 Cardiotonic Agents Phase 2, Phase 3
36 glutamine Phase 2, Phase 3
37 Neuroprotective Agents Phase 2, Phase 3
38 Hypoglycemic Agents Phase 3
39 Tea Phase 2, Phase 3
40 Sodium Channel Blockers Phase 3
41 Antihypertensive Agents Phase 2, Phase 3
42 Neurotransmitter Agents Phase 2, Phase 3
43 Adrenergic Agents Phase 2, Phase 3
44 Adrenergic beta-Antagonists Phase 2, Phase 3
45 Adrenergic Antagonists Phase 2, Phase 3
46 Sympatholytics Phase 2, Phase 3
47 Adrenergic beta-1 Receptor Antagonists Phase 2, Phase 3
48 Natriuretic Peptide, Brain Phase 2, Phase 3
49 Adrenergic beta-Agonists Phase 3
50 Adrenergic Agonists Phase 3

Interventional clinical trials:

(show top 50) (show all 441)
# Name Status NCT ID Phase Drugs
1 Carvedilol for the Prevention of Minor Cardiac Damage and Cardiac Function in Duchenne Muscular Dystrophy Unknown status NCT00606775 Phase 4 Carvedilol
2 Effects of Cardioprotective Therapy, Carvedilol vs Ramipril, in Patients Affected by Duchenne and Becker Muscular Dystrophy. Clinical Significance and Prognostic Value of Cardiac Magnetic Resonance Study. Unknown status NCT00819845 Phase 4 carvedilol;ramipril
3 Functional Muscle Ischemia and PDE5A Inhibition in Becker Muscular Dystrophy Completed NCT01070511 Phase 4 Tadalafil;Placebo
4 Stacking Exercises Attenuate the Decline in Forced Vital Capacity and Sick Time (STEADFAST) Completed NCT01999075 Phase 4
5 Comparison of the Immunogenicity of Intramuscular Versus Subcutaneous Administration of Trivalent Inactivated Influenza Vaccine in Individuals With Neuromuscular Diseases Completed NCT01422200 Phase 4
6 Évaluation Multidimensionnelle de la réponse au Traitement de l'ostéoporose spontanée et Induite Par Les corticostéroïdes à l'Aide d'un Bisphosphonate à Administration Orale Chez Des Malades Porteurs d'Une Dystrophie Musculaire sévère. Completed NCT01882400 Phase 4 Bisphosphonate treatment
7 An Open-Label Study to Evaluate the Safety of Golodirsen in Non-Ambulant Patients With Duchenne Muscular Dystrophy Recruiting NCT04708314 Phase 4 Golodirsen 50 MG/1 ML Intravenous Solution [VYONDYS 53]
8 Long-term Use of Viltolarsen in Boys With Duchenne Muscular Dystrophy in Clinical Practice (VILT-502) Not yet recruiting NCT04687020 Phase 4 Viltolarsen
9 Myocardial Fibrosis Progression in Duchenne and Becker Muscular Dystrophy - Angiotensin-Converting-Enzyme (ACE) Inhibitor Therapy Completed NCT02432885 Phase 3 Enalapril
10 Phase III Randomized, Double-Blind Study of Prednisone for Duchenne Muscular Dystrophy Completed NCT00004646 Phase 3 prednisone
11 Duchenne Muscular Dystrophy: Double-blind Randomized Trial to Find Optimum Steroid Regimen Completed NCT01603407 Phase 3 Prednisone;Prednisone;Deflazacort
12 A Randomized, Double Blind, Placebo-Controlled, Study to Assess the Efficacy, Safety, and Tolerability of RO7239361 in Ambulatory Boys With Duchenne Muscular Dystrophy Completed NCT03039686 Phase 2, Phase 3 RO7239361;Placebo for RO7239361
13 PITT0908: Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies Completed NCT01126697 Phase 2, Phase 3 Coenzyme Q10 and Lisinopril
14 A Phase III, Randomized, Double Blind, Placebo-controlled Clinical Study to Assess the Efficacy and Safety of GSK2402968 in Subjects With Duchenne Muscular Dystrophy Completed NCT01254019 Phase 3 GSK2402968 6mg/kg/week
15 Effects of Sodium Nitrate on Blood Flow in Becker Muscular Dystrophy Completed NCT02147639 Phase 2, Phase 3
16 A Randomized Study of Daily vs. High-dose Weekly Prednisone Therapy in Duchenne Muscular Dystrophy Completed NCT00110669 Phase 3 Prednisone
17 A Multicenter Randomized Placebo-controlled Double-blind Study to Assess Efficacy and Safety of Glutamine and Creatine Monohydrate in Duchenne Muscular Dystrophy Completed NCT00016653 Phase 2, Phase 3 Creatine Monohydrate;Glutamine
18 "A Double Blind Randomised Placebo Controlled Efficacy and Safety Study of L-citrulline and Metformin in Ambulant Children Aged Between 7 and 10 Years With Duchenne's Muscular Dystrophy" Completed NCT01995032 Phase 3 750 mg metformin and 7.5 g L-citrulline daily p.o.;Placebo
19 Sunphenon Epigallocatechin-Gallate (EGCg) in Duchenne Muscular Dystrophy Completed NCT01183767 Phase 2, Phase 3 Epigallocatechin-Gallate;Placebo
20 A Multicenter Randomized Placebo-Controlled Double-Blind Study to Assess Efficacy and Safety of Glutamine and Creatine Monohydrate in Duchenne Muscular Dystrophy (DMD) Completed NCT00018109 Phase 3 glutamine;creatine monohydrate
21 A Phase III Double-Blind, Randomised, Placebo-Controlled Study of the Efficacy, Safety and Tolerability of Idebenone in 10-18 Year Old Patients With Duchenne Muscular Dystrophy Completed NCT01027884 Phase 3 Placebo;Idebenone
22 A Phase 3 Efficacy and Safety Study of Ataluren in Patients With Nonsense Mutation Dystrophinopathy Completed NCT01826487 Phase 3 Ataluren;Placebo
23 An Open-Label Study for Previously Treated Ataluren (PTC124®) Patients With Nonsense Mutation Dystrophinopathy Completed NCT01557400 Phase 3 Ataluren
24 Therapeutic Potential for Aldosterone Inhibition in Duchenne Muscular Dystrophy Completed NCT02354352 Phase 3 Eplerenone;Spironolactone
25 A Pivotal, Multicenter, Open-label, Randomized Withdrawal, Non-Treatment Concurrent Control Study to Assess the Safety, Tolerability, and Efficacy of Cabaletta® in OPMD Patients Who Participated in Study BBCO-001 Completed NCT02328482 Phase 3 Tehalose 30gr
26 An Open-Label, Multi-Center, Study With a Concurrent Untreated Control Arm to Evaluate the Efficacy and Safety of Eteplirsen in Duchenne Muscular Dystrophy Completed NCT02255552 Phase 3 eteplirsen
27 A Randomized, Double-Blind, Placebo-Controlled, Global Phase 3 Study of Edasalonexent in Pediatric Patients With Duchenne Muscular Dystrophy Completed NCT03703882 Phase 3 Edasalonexent;Placebo
28 Deflazacort in Dysferlinopathies (LGMD2B/MM) - a Double Blind, Placebo-controlled Clinical Study Completed NCT00527228 Phase 2, Phase 3 deflazacort;placebo
29 A Phase 3, Randomized, Double-Blind, Trial of Pamrevlumab (FG-3019) or Placebo in Combination With Systemic Corticosteroids in Subjects With Non-ambulatory Duchenne Muscular Dystrophy (DMD) Recruiting NCT04371666 Phase 3 Pamrevlumab;Placebo
30 A Phase 3, Randomized, Double-Blind, Trial of Pamrevlumab (FG-3019) or Placebo in Combination With Systemic Corticosteroids in Ambulatory Subjects With Duchenne Muscular Dystrophy (DMD) Recruiting NCT04632940 Phase 3 Pamrevlumab;Placebo
31 A Phase 3, Randomized, Placebo-controlled, Double-blind and Open-label, Extension Study of TAS-205 in Patients With Duchenne Muscular Dystrophy Recruiting NCT04587908 Phase 3 TAS-205;Placebo
32 A Double-Blind, Placebo-Controlled, Multi-Center Study With an Open-Label Extension to Evaluate the Efficacy and Safety of SRP-4045 and SRP-4053 in Patients With Duchenne Muscular Dystrophy Recruiting NCT02500381 Phase 3 SRP-4045;SRP-4053;Placebo
33 A Phase 3 Randomized, Double-blind, Placebo-controlled, Multi-center Study to Assess the Efficacy and Safety of Viltolarsen in Ambulant Boys With Duchenne Muscular Dystrophy (DMD) Recruiting NCT04060199 Phase 3 Viltolarsen;Placebo
34 A Phase III Open-Label Extension Study to Assess the Long-Term Safety and Efficacy of Idebenone in Patients With Duchenne Muscular Dystrophy (DMD) Who Completed the SIDEROS Study Recruiting NCT03603288 Phase 3 idebenone 150 mg film-coated tablets
35 A PHASE 3, MULTICENTER, RANDOMIZED, DOUBLE-BLIND, PLACEBO CONTROLLED STUDY TO EVALUATE THE SAFETY AND EFFICACY OF PF 06939926 FOR THE TREATMENT OF DUCHENNE MUSCULAR DYSTROPHY Recruiting NCT04281485 Phase 3
36 Bisoprolol for Early Cardiomyopathy in Duchenne Muscular Dystrophy: a Randomized, Controlled Trial Recruiting NCT03779646 Phase 2, Phase 3 Bisoprolol Fumarate
37 A Multicenter Open Label Study on the Safety and Efficacy of Deflazacort (Emflaza®) in Subjects With Limb-Girdle Muscular Dystrophy 2I (LGMD2I) Active, not recruiting NCT03783923 Phase 3 Deflazacort
38 A Phase III Double-blind, Randomized, Placebo-Controlled Study Assessing the Efficacy, Safety and Tolerability of Idebenone in Patients With Duchenne Muscular Dystrophy Receiving Glucocorticoid Steroids Active, not recruiting NCT02814019 Phase 3 Idebenone 150 mg film-coated tablets;placebo
39 Randomised, Double Blind, Placebo Controlled, Multicentre Study to Evaluate the Efficacy and Safety of Givinostat in Ambulant Patients With Duchenne Muscular Dystrophy Active, not recruiting NCT02851797 Phase 3 givinostat;placebo
40 A Randomized, Double-Blind, Dose Finding and Comparison Study of the Safety and Efficacy of a High Dose of Eteplirsen, Preceded by an Open-label Dose Escalation, in Patients With Duchenne Muscular Dystrophy With Deletion Mutations Amenable to Exon 51 Skipping Active, not recruiting NCT03992430 Phase 3 Eteplirsen
41 A Randomized, Double-Blind, Placebo-Controlled, Multi-center Study to Examine the Effect of Nebivolol, a Beta-Blockade Drug, for the Prevention of Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy Active, not recruiting NCT01648634 Phase 3 Nebivolol;Placebo
42 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 Active, not recruiting NCT03179631 Phase 3 Ataluren;PLACEBO
43 Tamoxifen in Duchenne Muscular Dystrophy: A Multicenter, Randomised, Double-blind, Placebo-controlled, Phase 3 Safety and Efficacy 48-week Trial Active, not recruiting NCT03354039 Phase 3 Tamoxifen;Matching placebo
44 Long-term, Open-label Extension Study for Patients With Duchenne Muscular Dystrophy Enrolled in Clinical Trials Evaluating Casimersen or Golodirsen Enrolling by invitation NCT03532542 Phase 3 Casimersen;Golodirsen
45 An Open-Label, Safety Study for Previously Treated Ataluren (PTC124) Patients With Nonsense Mutation Dystrophinopathy Enrolling by invitation NCT01247207 Phase 3 Ataluren
46 Open Label, Long-term Safety, Tolerability, and Efficacy Study of GIVINOSTAT in All DMD Patients Who Have Been Previously Treated in One of the GIVINOSTAT Studies Enrolling by invitation NCT03373968 Phase 2, Phase 3 Givinostat
47 An Open-label Extension Study of the Long-term Safety, Tolerability and Efficacy of Drisapersen in US and Canadian Subjects With Duchenne Muscular Dystrophy. Terminated NCT01803412 Phase 3 Drisapersen;Drisapersen;Drisapersen
48 An Open-label Extension Study of the Long-term Safety, Tolerability and Efficacy of GSK2402968 in Subjects With Duchenne Muscular Dystrophy Terminated NCT01480245 Phase 3 GSK2402968
49 PITT0503: Clinical Trial of Coenzyme Q10 and Prednisone in Duchenne Muscular Dystrophy Terminated NCT00308113 Phase 3 Prednisone
50 Treatment of Ptosis to Muscular Dystrophy Oculopharyngeal by Myoblast Autologous Graft Terminated NCT02878694 Phase 2, Phase 3

Search NIH Clinical Center for Muscular Dystrophy

Cochrane evidence based reviews: muscular dystrophies

Genetic Tests for Muscular Dystrophy

Genetic tests related to Muscular Dystrophy:

# Genetic test Affiliating Genes
1 Muscular Dystrophy 29

Anatomical Context for Muscular Dystrophy

MalaCards organs/tissues related to Muscular Dystrophy:

40
Skeletal Muscle, Eye, Bone Marrow, Bone, Brain, Spinal Cord, Smooth Muscle

Publications for Muscular Dystrophy

Articles related to Muscular Dystrophy:

(show top 50) (show all 24071)
# Title Authors PMID Year
1
Pubertal induction in adolescents with DMD is associated with high satisfaction, gonadotropin release and increased muscle contractile surface area. 61 42
33112266 2021
2
Evaluation of an exercise-enabling control interface for powered wheelchair users: a feasibility study with Duchenne muscular dystrophy. 42 61
33115472 2020
3
Breathing Problems in Adults with Neuromuscular Weakness. 42
33258682 2020
4
Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. 54 61
20207543 2010
5
The first Italian family with tibial muscular dystrophy caused by a novel titin mutation. 54 61
19911250 2010
6
PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy. 61 54
20016501 2010
7
Abnormal development of the cerebral cortex and cerebellum in the setting of lamin B2 deficiency. 61 54
20145110 2010
8
Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex. 54 61
20052759 2010
9
Role of N-glycans in maintaining the activity of protein O-mannosyltransferases POMT1 and POMT2. 54 61
19880378 2010
10
Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine. 61 54
20225280 2010
11
Dysferlin associates with the developing T-tubule system in rodent and human skeletal muscle. 54 61
20082313 2010
12
Exclusion of mutations in the dysferlin alternative exons 1 of DYSF-v1, 5a, and 40a in a cohort of 26 patients. 61 54
19929428 2010
13
Caveolinopathies: from the biology of caveolin-3 to human diseases. 61 54
19584897 2010
14
Mutations alter secretion of fukutin-related protein. 61 54
19900540 2010
15
Zebrafish models for human FKRP muscular dystrophies. 61 54
19955119 2010
16
Dexamethasone induces dysferlin in myoblasts and enhances their myogenic differentiation. 61 54
20080405 2010
17
Systemic myostatin inhibition via liver-targeted gene transfer in normal and dystrophic mice. 61 54
20161803 2010
18
O-mannosyl phosphorylation of alpha-dystroglycan is required for laminin binding. 61 54
20044576 2010
19
Immunolabelling and flow cytometry as new tools to explore dysferlinopathies. 54 61
19854055 2010
20
Ku70 regulates Bax-mediated pathogenesis in laminin-alpha2-deficient human muscle cells and mouse models of congenital muscular dystrophy. 61 54
19692349 2009
21
Reduction of a 4q35-encoded nuclear envelope protein in muscle differentiation. 54 61
19716805 2009
22
Dystroglycan matrix receptor function in cardiac myocytes is important for limiting activity-induced myocardial damage. 61 54
19797173 2009
23
Depletion of zebrafish Tcap leads to muscular dystrophy via disrupting sarcomere-membrane interaction, not sarcomere assembly. 61 54
19679566 2009
24
Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. 54 61
19726876 2009
25
Laminin alters fyn regulatory mechanisms and promotes oligodendrocyte development. 54 61
19776266 2009
26
Mutational and functional analysis of Large in a novel CHO glycosylation mutant. 54 61
19470663 2009
27
Laminopathies and the long strange trip from basic cell biology to therapy. 61 54
19587457 2009
28
Immortalized skin fibroblasts expressing conditional MyoD as a renewable and reliable source of converted human muscle cells to assess therapeutic strategies for muscular dystrophies: validation of an exon-skipping approach to restore dystrophin in Duchenne muscular dystrophy cells. 61 54
19358679 2009
29
Muscular dystrophy candidate gene FRG1 is critical for muscle development. 61 54
19097195 2009
30
Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families. 54 61
19266496 2009
31
Prevention of cardiomyopathy in delta-sarcoglycan knockout mice after systemic transfer of targeted adeno-associated viral vectors. 61 54
19218289 2009
32
Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin. 61 54
19380584 2009
33
Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy. 61 54
19286669 2009
34
Therapy for neuromuscular disorders. 61 54
19411172 2009
35
Defective myotilin homodimerization caused by a novel mutation in MYOT exon 9 in the first Japanese limb girdle muscular dystrophy 1A patient. 61 54
19458539 2009
36
Dystrophin and utrophin have distinct effects on the structural dynamics of actin. 54 61
19416869 2009
37
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. 61 54
19299310 2009
38
Sarcolemmal neuronal nitric oxide synthase defect in limb-girdle muscular dystrophy: an adverse modulating factor in the disease course? 54 61
19287313 2009
39
Partial epilepsy in an adolescent male with limb-girdle muscular dystrophy 1B. 61 54
19258295 2009
40
'Congenital muscular dystrophy caused by integrin alpha7 deficiency'. 54 61
19260934 2009
41
Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies. 54 61
19155270 2009
42
Correction of dystrophia myotonica type 1 pre-mRNA transcripts by artificial trans-splicing. 54 61
18923454 2009
43
Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation. 61 54
19283854 2009
44
LAMA2 stop-codon mutation: merosin-deficient congenital muscular dystrophy with occipital polymicrogyria, epilepsy and psychomotor regression. 61 54
18406646 2009
45
Mutational analysis of fukutin gene in dilated cardiomyopathy and hypertrophic cardiomyopathy. 54 61
19015585 2009
46
Single muscle fiber contractile properties in adults with muscular dystrophy treated with MYO-029. 54 61
19086063 2009
47
Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy. 54 61
19084400 2009
48
LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients. 54 61
18700894 2008
49
Calpain 3, the "gatekeeper" of proper sarcomere assembly, turnover and maintenance. 61 54
18974005 2008
50
Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient. 54 61
18948002 2008

Variations for Muscular Dystrophy

ClinVar genetic disease variations for Muscular Dystrophy:

6 (show top 50) (show all 55)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 POMT2 NM_013382.5(POMT2):c.1577-5_1577-1delinsTGA Indel Pathogenic 211950 rs797045898 14:77750217-77750221 14:77283874-77283878
2 POMT2 NM_013382.5(POMT2):c.678del (p.Trp226fs) Deletion Pathogenic 211951 rs755660222 14:77767571-77767571 14:77301228-77301228
3 DMD NM_004006.2(DMD):c.(?_6439)-24498_(7873_?)-5329del Deletion Pathogenic 228331 X:31681590-32011129 X:31663473-31993012
4 LMNA NM_170707.4(LMNA):c.840_845del (p.Arg280_Asn281del) Deletion Pathogenic 435777 rs1553265436 1:156105005-156105010 1:156135214-156135219
5 LMNA NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) SNV Pathogenic 14478 rs58932704 1:156106204-156106204 1:156136413-156136413
6 LMNA NM_170707.4(LMNA):c.1588C>T (p.Leu530Phe) SNV Pathogenic 435773 rs780302064 1:156107003-156107003 1:156137212-156137212
7 LMNA NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) SNV Pathogenic 66931 rs59332535 1:156104702-156104702 1:156134911-156134911
8 LMNA NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys) SNV Pathogenic 14525 rs60458016 1:156105827-156105827 1:156136036-156136036
9 LMNA NM_170707.4(LMNA):c.1786G>A (p.Asp596Asn) SNV Pathogenic 435774 rs769561386 1:156108366-156108366 1:156138575-156138575
10 LMNA NM_170707.4(LMNA):c.832G>C (p.Ala278Pro) SNV Pathogenic 435769 rs1553265433 1:156104999-156104999 1:156135208-156135208
11 LMNA NM_170707.4(LMNA):c.1130G>A (p.Arg377His) SNV Pathogenic 14495 rs61672878 1:156105885-156105885 1:156136094-156136094
12 LMNA NM_170707.4(LMNA):c.1081G>A (p.Glu361Lys) SNV Pathogenic 66772 rs267607634 1:156105836-156105836 1:156136045-156136045
13 CAPN3 NM_000070.3(CAPN3):c.1322del (p.Gly441fs) Deletion Pathogenic 281062 rs1555421871 15:42691815-42691815 15:42399617-42399617
14 GMPPB NM_021971.4(GMPPB):c.79G>C (p.Asp27His) SNV Pathogenic 60546 rs142336618 3:49761081-49761081 3:49723648-49723648
15 DMD NM_004006.2(DMD):c.(?_32)_(649_?)del Deletion Pathogenic 505317 X:32827610-33038317 X:32809493-33020200
16 DMD NM_004006.3(DMD):c.4271T>A (p.Leu1424Ter) SNV Pathogenic 989453 X:32408261-32408261 X:32390144-32390144
17 POMT2 NM_013382.5(POMT2):c.1997A>G (p.Tyr666Cys) SNV Pathogenic 3221 rs200198778 14:77745107-77745107 14:77278764-77278764
18 FKRP NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp) SNV Pathogenic 4235 rs121908110 19:47260094-47260094 19:46756837-46756837
19 GMPPB NM_021971.4(GMPPB):c.859C>T (p.Arg287Trp) SNV Pathogenic 225925 rs142908436 3:49759490-49759490 3:49722057-49722057
20 CAPN3 NM_000070.3(CAPN3):c.550del (p.Thr184fs) Deletion Pathogenic 17621 rs80338800 15:42680001-42680001 15:42387803-42387803
21 CAPN3 NM_000070.3(CAPN3):c.550del (p.Thr184fs) Deletion Pathogenic 17621 rs80338800 15:42680001-42680001 15:42387803-42387803
22 SGCA NM_000023.4(SGCA):c.574C>T (p.Arg192Ter) SNV Pathogenic 37202 rs387907298 17:48245923-48245923 17:50168562-50168562
23 CAPN3 NM_000070.3(CAPN3):c.550del (p.Thr184fs) Deletion Pathogenic 17621 rs80338800 15:42680001-42680001 15:42387803-42387803
24 SELENON NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln) SNV Pathogenic 4492 rs121908185 1:26140381-26140381 1:25813890-25813890
25 SELENON NM_020451.3(SELENON):c.746_747+36del Deletion Pathogenic 930110 1:26135278-26135315 1:25808787-25808824
26 DYSF NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu) SNV Likely pathogenic 94311 rs34997054 2:71738977-71738977 2:71511847-71511847
27 PMM2 NM_000303.3(PMM2):c.584A>G (p.His195Arg) SNV Likely pathogenic 812999 rs1596489887 16:8906908-8906908 16:8813051-8813051
28 PMM2 NM_000303.3(PMM2):c.422G>A (p.Arg141His) SNV Likely pathogenic 7706 rs28936415 16:8905010-8905010 16:8811153-8811153
29 TTN-AS1 NM_001267550.2(TTN):c.103360del (p.Glu34454fs) Deletion Likely pathogenic 374145 rs760768093 2:179397982-179397982 2:178533255-178533255
30 DMD NM_000109.4(DMD):c.1788+601A>G SNV Likely pathogenic 689541 rs1603636710 X:32591046-32591046 X:32572929-32572929
31 DMD NM_004006.2(DMD):c.357+1G>A SNV Likely pathogenic 523467 rs1557058294 X:32841411-32841411 X:32823294-32823294
32 ANO5 NM_213599.2(ANO5):c.1213C>T (p.Gln405Ter) SNV Likely pathogenic 285742 rs368970223 11:22276949-22276949 11:22255403-22255403
33 LMNA NM_170707.4(LMNA):c.810G>C (p.Lys270Asn) SNV Likely pathogenic 636306 rs267607631 1:156104766-156104766 1:156134975-156134975
34 COL6A2 NM_001849.3(COL6A2):c.736-2A>G SNV Likely pathogenic 374143 rs1057518925 21:47533920-47533920 21:46114006-46114006
35 LMNA NM_170707.4(LMNA):c.104T>C (p.Leu35Pro) SNV Likely pathogenic 66765 rs267607644 1:156084813-156084813 1:156115022-156115022
36 LMNA NM_170707.4(LMNA):c.464_478del (p.Lys155_Gly160delinsSer) Deletion Likely pathogenic 435775 rs1553264624 1:156100515-156100529 1:156130724-156130738
37 TTN NM_001267550.2(TTN):c.1800+1G>A SNV Likely pathogenic 46689 rs397517497 2:179655434-179655434 2:178790707-178790707
38 LMNA NM_170707.4(LMNA):c.790_792del (p.Glu264del) Deletion Likely pathogenic 435776 rs1553265369 1:156104745-156104747 1:156134954-156134956
39 LMNA NM_170707.4(LMNA):c.1147_1149GAG[2] (p.Glu385del) Microsatellite Likely pathogenic 435778 rs1553265761 1:156105902-156105904 1:156136111-156136113
40 LMNA NM_170707.4(LMNA):c.1163G>C (p.Arg388Pro) SNV Likely pathogenic 435771 rs267607576 1:156106010-156106010 1:156136219-156136219
41 NEB NM_001271208.2(NEB):c.24094C>T (p.Arg8032Ter) SNV Likely pathogenic 373977 rs549794342 2:152357937-152357937 2:151501423-151501423
42 TTN-AS1 NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) SNV Likely pathogenic 202529 rs757082154 2:179392218-179392218 2:178527491-178527491
43 LARGE1 NM_004737.6(LARGE1):c.211G>A (p.Glu71Lys) SNV Uncertain significance 158807 rs116164106 22:34046550-34046550 22:33650564-33650564
44 LARGE1 NM_004737.6(LARGE1):c.615+8C>T SNV Uncertain significance 158809 rs587783731 22:34000413-34000413 22:33604427-33604427
45 DTHD1 NM_001170700.3(DTHD1):c.256T>C (p.Cys86Arg) SNV Uncertain significance 242990 rs886037840 4:36283636-36283636 4:36282014-36282014
46 TTN-AS1 NM_001267550.2(TTN):c.62129dup (p.Ser20712fs) Duplication Uncertain significance 266119 rs886039913 2:179454322-179454323 2:178589595-178589596
47 DYSF NM_001130987.2(DYSF):c.231G>A (p.Gly77=) SNV Uncertain significance 437460 rs1553508988 2:71709092-71709092 2:71481962-71481962
48 TP63 NM_003722.5(TP63):c.191+5G>C SNV Uncertain significance 495341 rs1553824695 3:189455662-189455662 3:189737873-189737873
49 MYH2 NM_017534.6(MYH2):c.3600G>T (p.Lys1200Asn) SNV Uncertain significance 689373 rs974071552 17:10432151-10432151 17:10528834-10528834
50 TTN NM_001267550.2(TTN):c.11444A>C (p.Lys3815Thr) SNV Uncertain significance 523427 rs1184657184 2:179606516-179606516 2:178741789-178741789

Copy number variations for Muscular Dystrophy from CNVD:

7 (show all 13)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 39763 10 119100000 135374737 Deletion Muscular dystrophy
2 129320 19 45200000 48000000 Gain or loss FKRP Muscular dystrophy
3 139274 2 178000000 180600000 Gain or loss TTN Muscular dystrophy
4 184838 4 182600000 191273063 Deletion SLC25A4 Muscular dystrophy
5 184839 4 182600000 191273063 Deletion DUX4 Muscular dystrophy
6 184840 4 182600000 191273063 Deletion DUX4L9 Muscular dystrophy
7 184841 4 182600000 191273063 Deletion FRG1 Muscular dystrophy
8 184842 4 182600000 191273063 Deletion FRG2 Muscular dystrophy
9 187519 4 50400000 52700000 Gain or loss SGCB Muscular dystrophy
10 187531 4 50700000 191273063 Deletion USP17L9P Muscular dystrophy
11 262035 X 29400000 31500000 Microdeletion Muscular dystrophy
12 262126 X 31047265 33267647 Deletion DMD Muscular dystrophy
13 262132 X 31047265 33267647 Insertion DMD Muscular dystrophy

Expression for Muscular Dystrophy

Search GEO for disease gene expression data for Muscular Dystrophy.

Pathways for Muscular Dystrophy

GO Terms for Muscular Dystrophy

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.28 TTN SGCG SGCB SGCA SELENON POMT2
2 Z disc GO:0030018 9.56 TTN TCAP DMD CAPN3
3 I band GO:0031674 9.43 TTN TCAP
4 costamere GO:0043034 9.37 PLEC DMD
5 dystrophin-associated glycoprotein complex GO:0016010 9.33 SGCB SGCA DMD
6 dystroglycan complex GO:0016011 9.32 SGCB SGCA
7 sarcolemma GO:0042383 9.28 SGCG SGCB SGCA PLEC LAMA2 FKRP
8 sarcoglycan complex GO:0016012 9.13 SGCG SGCB SGCA

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 cardiac muscle contraction GO:0060048 9.61 TTN TCAP DMD
2 muscle cell cellular homeostasis GO:0046716 9.59 DMD CAPN3
3 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.58 SELENON DMD
4 response to muscle stretch GO:0035994 9.58 TCAP DMD
5 muscle filament sliding GO:0030049 9.58 TTN TCAP DMD
6 muscle fiber development GO:0048747 9.57 SGCB DMD
7 cardiac muscle tissue morphogenesis GO:0055008 9.56 TTN TCAP
8 cardiac myofibril assembly GO:0055003 9.55 TTN TCAP
9 response to denervation involved in regulation of muscle adaptation GO:0014894 9.54 SGCA DMD
10 sarcomere organization GO:0045214 9.54 TTN TCAP CAPN3
11 cardiac muscle hypertrophy GO:0003300 9.52 TTN TCAP
12 mitotic nuclear envelope reassembly GO:0007084 9.51 LMNA EMD
13 cardiac muscle fiber development GO:0048739 9.49 TTN TCAP
14 detection of muscle stretch GO:0035995 9.48 TTN TCAP
15 skeletal muscle thin filament assembly GO:0030240 9.46 TTN TCAP
16 muscle contraction GO:0006936 9.35 TTN SGCA PABPN1 EMD DYSF
17 protein O-linked mannosylation GO:0035269 9.33 POMT2 FKTN FKRP
18 sarcomerogenesis GO:0048769 9.32 TTN TCAP
19 muscle organ development GO:0007517 9.28 SGCG SGCB SGCA LMNA LAMA2 FKTN
20 skeletal muscle myosin thick filament assembly GO:0030241 9.26 TTN TCAP

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

# Name GO ID Score Top Affiliating Genes
1 titin binding GO:0031432 9.16 TCAP CAPN3
2 structural constituent of muscle GO:0008307 9.02 TTN TCAP PLEC DMD CAPN3
3 dystroglycan binding GO:0002162 8.96 FKRP DMD

Sources for Muscular Dystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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