LGMD
MCID: LMB006
MIFTS: 51

Limb-Girdle Muscular Dystrophy (LGMD) malady

Categories: Rare diseases, Genetic diseases, Muscle diseases, Neuronal diseases

Aliases & Classifications for Limb-Girdle Muscular Dystrophy

Aliases & Descriptions for Limb-Girdle Muscular Dystrophy:

Name: Limb-Girdle Muscular Dystrophy 23 50 24 25
Lgmd 23 50 24 25
Limb Girdle Muscular Dystrophy 50 24 29
Muscular Dystrophies, Limb-Girdle 69
Myopathic Limb-Girdle Syndrome 25
Muscular Dystrophy Limb-Girdle 52
Limb-Girdle Syndrome 25
Limb Girdle 52

Classifications:



Summaries for Limb-Girdle Muscular Dystrophy

NIH Rare Diseases : 50 limb-girdle muscular dystrophy is a group of disorders which affect the voluntary muscles around the hips and shoulders. the conditions are progressive, leading to a loss of muscle strength and bulk over a number of years. onset may occur in childhood, adolescence, young adulthood, or even later. males and females are affected in equal numbers. most forms of limb girdle muscular dystrophy are inherited in an autosomal recessive manner. several rare forms are inherited in an autosomal dominant pattern. while there are no treatments which directly reverse the muscle weakness associated with this condition, supportive treatment can decrease the complications. there are at least 20 different types of limb-girdle muscular dystrophy. last updated: 12/17/2015

MalaCards based summary : Limb-Girdle Muscular Dystrophy, also known as lgmd, is related to autosomal recessive limb-girdle muscular dystrophy type 2x and autosomal recessive limb-girdle muscular dystrophy type 2f. An important gene associated with Limb-Girdle Muscular Dystrophy is LMNA (Lamin A/C), and among its related pathways/superpathways are Dilated cardiomyopathy and Arrhythmogenic right ventricular cardiomyopathy (ARVC). The drugs Deflazacort and Lisinopril have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, heart and testes, and related phenotypes are cardiovascular system and homeostasis/metabolism

Genetics Home Reference : 25 Limb-girdle muscular dystrophy is a term for a group of diseases that cause weakness and wasting of the muscles in the arms and legs. The muscles most affected are those closest to the body (proximal muscles), specifically the muscles of the shoulders, upper arms, pelvic area, and thighs.

Wikipedia : 71 Limb-girdle muscular dystrophy (LGMD) or Erb\'s muscular dystrophy is a genetically and clinically... more...

GeneReviews: NBK1408

Related Diseases for Limb-Girdle Muscular Dystrophy

Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Type 1b Muscular Dystrophy, Limb-Girdle, Type 2b
Muscular Dystrophy, Limb-Girdle, Type 2j Muscular Dystrophy, Limb-Girdle, Type 2r
Muscular Dystrophy, Limb-Girdle, Type Ic Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Type 2e Limb-Girdle Muscular Dystrophy, Type 1g
Muscular Dystrophy, Limb-Girdle, Type 1a Muscular Dystrophy, Limb-Girdle, Type 2f
Muscular Dystrophy, Limb-Girdle, Type 1f Muscular Dystrophy, Limb-Girdle, Type 1e
Muscular Dystrophy, Limb-Girdle, Type 2q Muscular Dystrophy, Limb-Girdle, Type 2h
Muscular Dystrophy, Limb-Girdle, Type 2l Muscular Dystrophy, Limb-Girdle, Type 2c
Muscular Dystrophy, Limb-Girdle, Type 2a Muscular Dystrophy, Limb-Girdle, Type 2g
Muscular Dystrophy, Limb-Girdle, Type 2d Autosomal Dominant Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z
Limb-Girdle Muscular Dystrophy 2z

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

(show top 50) (show all 127)
id Related Disease Score Top Affiliating Genes
1 autosomal recessive limb-girdle muscular dystrophy type 2x 33.7 CAPN3 DYSF SGCA SGCG
2 autosomal recessive limb-girdle muscular dystrophy type 2f 33.6 CAV3 LMNA MYOT
3 autosomal dominant limb-girdle muscular dystrophy type 1c 33.4 CAPN3 DYSF TCAP TRIM32
4 autosomal recessive limb-girdle muscular dystrophy type 2h 32.9 CAPN3 CAV3 DYSF SGCA TCAP TRIM32
5 autosomal recessive limb-girdle muscular dystrophy type 2w 32.6 CAPN3 CAV3 DYSF MYOT SGCA TCAP
6 rippling muscle disease 31.9 CAV3 DYSF
7 ptosis 30.3 CAV3 DYSF
8 limb-girdle muscular dystrophy, type 1g 12.6
9 autosomal recessive limb-girdle muscular dystrophy 12.6
10 autosomal dominant limb-girdle muscular dystrophy 12.6
11 autosomal recessive limb-girdle muscular dystrophy type 2b 12.5
12 limb-girdle muscular dystrophy 2z 12.4
13 muscular dystrophy, limb-girdle, type 2e 12.3
14 calpainopathy 12.2
15 collagen type vi-related autosomal dominant limb-girdle muscular dystrophy 12.2
16 muscular dystrophy, limb-girdle, type 2q 12.2
17 muscular dystrophy-dystroglycanopathy , type c, 1 12.2
18 muscular dystrophy, limb-girdle, type 1e 12.2
19 autosomal recessive limb-girdle muscular dystrophy type 2z 12.1
20 muscular dystrophy, limb-girdle, type 2c 12.1
21 muscular dystrophy-dystroglycanopathy , type c, 5 12.1
22 muscular dystrophy, limb-girdle, type 1f 12.1
23 muscular dystrophy, limb-girdle, type 1a 12.1
24 muscular dystrophy, limb-girdle, type 2a 12.1
25 muscular dystrophy, limb-girdle, type 1b 12.1
26 muscular dystrophy, limb-girdle, type 2g 12.1
27 muscular dystrophy, limb-girdle, type 2b 12.1
28 muscular dystrophy, limb-girdle, type 2d 12.1
29 muscular dystrophy, limb-girdle, type 2r 12.1
30 muscular dystrophy, limb-girdle, type 1h 12.1
31 muscular dystrophy, limb-girdle, type 2j 12.1
32 muscular dystrophy, limb-girdle, type 2l 12.1
33 muscular dystrophy-dystroglycanopathy , type c, 3 12.0
34 muscular dystrophy-dystroglycanopathy , type c, 4 12.0
35 muscular dystrophy-dystroglycanopathy , type c, 2 12.0
36 muscular dystrophy, limb-girdle, type 2h 12.0
37 muscular dystrophy, limb-girdle, type 2f 12.0
38 muscular dystrophy-dystroglycanopathy , type c, 7 11.9
39 muscular dystrophy-dystroglycanopathy , type c, 14 11.9
40 muscular dystrophy-dystroglycanopathy , type c, 9 11.9
41 muscular dystrophy, limb-girdle, type ic 11.9
42 inclusion body myopathy with early-onset paget disease and frontotemporal dementia 1 11.7
43 dysferlinopathy 11.6
44 epidermolysa bullosa simplex with muscular dystrophy 11.4
45 epidermolysis bullosa simplex with muscular dystrophy 11.4
46 becker muscular dystrophy 11.4
47 muscular dystrophy 11.4
48 myopathy, myofibrillar, 1 11.1
49 muscular dystrophy-dystroglycanopathy , type c, 12 11.1
50 inclusion body myopathy with early-onset paget disease and frontotemporal dementia 11.1

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



Diseases related to Limb-Girdle Muscular Dystrophy

Symptoms & Phenotypes for Limb-Girdle Muscular Dystrophy

MGI Mouse Phenotypes related to Limb-Girdle Muscular Dystrophy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.7 CAPN3 CAV3 LMNA SGCA SGCB SGCG
2 homeostasis/metabolism MP:0005376 9.56 CAPN3 CAV3 DYSF LMNA SGCA SGCG
3 muscle MP:0005369 9.28 CAPN3 CAV3 DYSF LMNA SGCA SGCB

Drugs & Therapeutics for Limb-Girdle Muscular Dystrophy

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

(show all 18)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Deflazacort Approved Phase 2, Phase 3 14484-47-0
2
Lisinopril Approved, Investigational Phase 2, Phase 3 83915-83-7 5362119
3 Immunosuppressive Agents Phase 2, Phase 3
4 Anti-Inflammatory Agents Phase 2, Phase 3
5 Ubiquinone Phase 2, Phase 3
6
protease inhibitors Phase 2, Phase 3
7 HIV Protease Inhibitors Phase 2, Phase 3
8 Trace Elements Phase 2, Phase 3
9 Angiotensin-Converting Enzyme Inhibitors Phase 2, Phase 3
10 Vitamins Phase 2, Phase 3
11 Protective Agents Phase 2, Phase 3
12 Antihypertensive Agents Phase 2, Phase 3
13 Micronutrients Phase 2, Phase 3
14
Coenzyme Q10 Experimental, Nutraceutical Phase 2, Phase 3 303-98-0 5281915
15 Tin Fluorides Phase 1, Phase 2
16 Vaccines Phase 1
17
Menthol Approved 2216-51-5 16666
18 Pharmaceutical Solutions

Interventional clinical trials:

(show all 29)
id Name Status NCT ID Phase
1 Deflazacort in Dysferlinopathies Completed NCT00527228 Phase 2, Phase 3
2 Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies Enrolling by invitation NCT01126697 Phase 2, Phase 3
3 The Safety and Biological Activity of ATYR1940 in Patients With Limb Girdle or Facioscapulohumeral Muscular Dystrophies Completed NCT02579239 Phase 1, Phase 2
4 Study to Evaluate the Long-Term Safety, Tolerability, and Biological Activity of ATYR1940 in Patients With Limb Girdle and Facioscapulohumeral Muscular Dystrophy Completed NCT02836418 Phase 1, Phase 2
5 Study Evaluating MYO-029 in Adult Muscular Dystrophy Completed NCT00104078 Phase 1, Phase 2
6 A Trial of PF-06252616 in Ambulatory Participants With LGMD2I Recruiting NCT02841267 Phase 1, Phase 2
7 Gene Transfer Clinical Trial for LGMD2D (Alpha-sarcoglycan Deficiency) Using scAAVrh74.tMCK.hSGCA Enrolling by invitation NCT01976091 Phase 1, Phase 2
8 Cell Therapy in Limb Girdle Muscular Dystrophy Completed NCT02245711 Phase 1
9 Stem Cell Therapy in Limb Girdle Muscular Dystrophy Completed NCT02050776 Phase 1
10 Clinical Study of AAV1-gamma-sarcoglycan Gene Therapy for Limb Girdle Muscular Dystrophy Type 2C Completed NCT01344798 Phase 1
11 Gene Transfer Therapy for Treating Children and Adults With Limb Girdle Muscular Dystrophy Type 2D (LGMD2D) Completed NCT00494195 Phase 1
12 Safety Study of Transvenous Limb Perfusion in Human Muscular Dystrophy Completed NCT00873782 Phase 1
13 rAAVrh74.MHCK7.DYSF.DV for Treatment of Dysferlinopathies Recruiting NCT02710500 Phase 1
14 Molecular Analysis of Patients With Neuromuscular Disease Unknown status NCT00390104
15 Muscle MRI in Becker Muscular Dystrophy and in Limb-girdle Muscular Dystrophy Type 2I Completed NCT02165358
16 Evaluation of Limb-Girdle Muscular Dystrophy Completed NCT00893334
17 MRI and Muscle Involvement in Patients With Mutations in GMPPB Completed NCT02635321
18 MRI on Persons With Mutations in POMT2 Gene (LGMD2N) Completed NCT02759302
19 Cardiac Magnetic Resonance in Children With Muscular Dystrophy Completed NCT01081080
20 Cardiac Outcome Measures in Children With Muscular Dystrophy Completed NCT01066455
21 Limb Girdle Muscular Dystrophy (LGMD) Natural History Recruiting NCT01783509
22 Screening Questionnaire for Respiratory Muscle Weakness and Sleep-disordered Breathing in Neuromuscular Disorders Recruiting NCT02833168
23 Acceptance and Commitment Therapy for Muscle Disease Recruiting NCT02810028
24 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402
25 User-centred Assistive System for Arm Functions in Neuromuscular Subjects Recruiting NCT03127241
26 Clinical Trial Readiness for the Dystroglycanopathies Recruiting NCT00313677
27 Genetic Characterization of Individuals With Limb Girdle Muscular Dystrophy Active, not recruiting NCT00457912
28 Clinical Outcome Study for Dysferlinopathy Active, not recruiting NCT01676077
29 Clinical Importance of Carrier Status of Recessive Gene Mutations in Myopathy (CICS) Not yet recruiting NCT02897921

Search NIH Clinical Center for Limb-Girdle Muscular Dystrophy

Genetic Tests for Limb-Girdle Muscular Dystrophy

Genetic tests related to Limb-Girdle Muscular Dystrophy:

id Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy 29 24

Anatomical Context for Limb-Girdle Muscular Dystrophy

MalaCards organs/tissues related to Limb-Girdle Muscular Dystrophy:

39
Skeletal Muscle, Heart, Testes, Bone, Monocytes, Myeloid, Pituitary

Publications for Limb-Girdle Muscular Dystrophy

Articles related to Limb-Girdle Muscular Dystrophy:

(show top 50) (show all 479)
id Title Authors Year
1
Childhood Activity on Progression in Limb Girdle Muscular Dystrophy 2I. ( 27872178 )
2017
2
Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome. ( 28433477 )
2017
3
The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis. ( 27184587 )
2017
4
Cardiopulmonary dysfunction in patients with limb-girdle muscular dystrophy 2A. ( 27500519 )
2016
5
Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene. ( 27020652 )
2016
6
Trendelenburg-Like Gait, Instability and Altered Step Patterns in a Mouse Model for Limb Girdle Muscular Dystrophy 2i. ( 27627455 )
2016
7
Limb-girdle muscular dystrophy in the Agarwals: Utility of founder mutations in CAPN3 gene. ( 27011640 )
2016
8
B4GALNT2 (GALGT2) Gene Therapy Reduces Skeletal Muscle Pathology in the FKRP P448L Mouse Model of Limb Girdle Muscular Dystrophy 2I. ( 27561302 )
2016
9
Probable high prevalence of limb-girdle muscular dystrophy type 2D in Taiwan. ( 26944168 )
2016
10
TOR1AIP1 as a cause of cardiac failure and recessive limb-girdle muscular dystrophy. ( 27342937 )
2016
11
Novel Homozygous Missense Mutation in CAPN3 Gene Detected in a Saudi Arabian Family With Limb-Girdle Muscular Dystrophy Type 2A. ( 27861222 )
2016
12
Reversal of Defective Mitochondrial Biogenesis in Limb-Girdle Muscular Dystrophy 2D by Independent Modulation of Histone and PGC-1I+ Acetylation. ( 27974213 )
2016
13
Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt. ( 26934379 )
2016
14
A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies. ( 27671536 )
2016
15
Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy. ( 26886200 )
2016
16
Health perceptions of young adults living with recessive limb-girdle muscular dystrophy. ( 27005675 )
2016
17
An elderly-onset limb girdle muscular dystrophy type 1B (LGMD1B) with pseudo-hypertrophy of paraspinal muscles. ( 27220833 )
2016
18
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T). ( 27766311 )
2016
19
A rare form of limb girdle muscular dystrophy (type 2E) seen in an Iranian family detected by autozygosity mapping. ( 27276190 )
2016
20
Precise Correction of Disease Mutations in Induced Pluripotent Stem Cells Derived From Patients With Limb Girdle Muscular Dystrophy. ( 26916285 )
2016
21
Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies. ( 27142102 )
2016
22
Severe murine limb girdle muscular dystrophy type 2C pathology is diminished by FTY720 treatment. ( 27935071 )
2016
23
Case of limb-girdle muscular dystrophy for total thyroidectomy: Anaesthetic management. ( 27212726 )
2016
24
Attenuated Ca(2+) release in a mouse model of limb girdle muscular dystrophy 2A. ( 26913171 )
2016
25
Glucocorticoid Steroid and Alendronate Treatment Alleviates Dystrophic Phenotype with Enhanced Functional Glycosylation of I+-Dystroglycan in Mouse Model of Limb-Girdle Muscular Dystrophy with FKRPP448L Mutation. ( 27109613 )
2016
26
Clinical and neuroimaging findings in two brothers with limb girdle muscular dystrophy due to LAMA2 mutations. ( 27932089 )
2016
27
The Limb-Girdle Muscular Dystrophies and the Dystrophinopathies. ( 27922502 )
2016
28
Neuromuscular disease. Diagnosis and discovery in limb-girdle muscular dystrophy. ( 26670295 )
2016
29
A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy. ( 27259757 )
2016
30
Limb-girdle muscular dystrophy with severe heart failure overlapping with lipodystrophy in a patient with LMNA mutation p.Ser334del. ( 27585670 )
2016
31
A novel mutation in alpha sarcoglycan gene in an Iranian family with limb girdle muscular dystrophy 2D. ( 27093116 )
2016
32
Failure to up-regulate transcription of genes necessary for muscle adaptation underlies limb girdle muscular dystrophy 2A (calpainopathy). ( 27005420 )
2016
33
An Irish case of limb-girdle muscular dystrophy 2I with structural eye involvement. ( 26833294 )
2016
34
Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohort. ( 25998610 )
2015
35
Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF. ( 26077327 )
2015
36
A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics. ( 25802879 )
2015
37
Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic? ( 25898921 )
2015
38
Incomplete penetrance in the spanish family with limb-girdle muscular dystrophy type 1F. ( 26351998 )
2015
39
A New Mouse Model of Limb-Girdle Muscular Dystrophy Type 2I Homozygous for the Common L276I Mutation Mimicking the Mild Phenotype in Humans. ( 26574668 )
2015
40
LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies. ( 25663498 )
2015
41
Limb-Girdle Muscular Dystrophy Type 2A Resulting From c.C479G and c.G1818A Mutations in the Calpain-3 Gene. ( 26583491 )
2015
42
The effects of electrical stimulation and exercise therapy in patients with limb girdle muscular dystrophy. A controlled clinical trial. ( 26166595 )
2015
43
Conserved expression of truncated telethonin in a patient with limb-girdle muscular dystrophy 2G. ( 25724973 )
2015
44
Novel mutations in DNAJB6 gene cause a very severe early-onset limb-girdle muscular dystrophy 1D disease. ( 26338452 )
2015
45
Limb-girdle muscular dystrophy with obesity for elective cesarean section: Anesthetic management and brief review of the literature. ( 25886439 )
2015
46
Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E. ( 25862795 )
2015
47
Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned. ( 26436962 )
2015
48
Myofibrillar disruption and RNA-binding protein aggregation in a mouse model of limb-girdle muscular dystrophy 1D. ( 26362252 )
2015
49
Adult onset limb-girdle muscular dystrophy - A recessive titinopathy masquerading as myositis. ( 25772186 )
2015
50
Diagnostic clues and manifesting carriers in fukutin-related protein (FKRP) limb-girdle muscular dystrophy. ( 25560911 )
2015

Variations for Limb-Girdle Muscular Dystrophy

ClinVar genetic disease variations for Limb-Girdle Muscular Dystrophy:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 LMNA NM_170707.3(LMNA): c.1146C> T (p.Gly382=) single nucleotide variant Pathogenic/Likely pathogenic rs57508089 GRCh37 Chromosome 1, 156105901: 156105901
2 LMNA NM_170707.3(LMNA): c.1608+1G> A single nucleotide variant Pathogenic rs267607592 GRCh37 Chromosome 1, 156107024: 156107024

Expression for Limb-Girdle Muscular Dystrophy

Search GEO for disease gene expression data for Limb-Girdle Muscular Dystrophy.

Pathways for Limb-Girdle Muscular Dystrophy

Pathways related to Limb-Girdle Muscular Dystrophy according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.49 LMNA SGCA SGCB SGCG
2
Show member pathways
11.43 CAPN3 LMNA SGCA SGCB SGCG
3 10.71 CAV3 DYSF

GO Terms for Limb-Girdle Muscular Dystrophy

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

id Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.62 CAPN3 CAV3 MYOT TCAP
2 T-tubule GO:0030315 9.54 CAPN3 CAV3 DYSF
3 dystrophin-associated glycoprotein complex GO:0016010 9.43 CAV3 SGCA SGCB
4 sarcoglycan complex GO:0016012 9.33 SGCA SGCB SGCG
5 dystroglycan complex GO:0016011 9.13 SGCA SGCB SGCG
6 sarcolemma GO:0042383 9.1 CAV3 DYSF MYOT SGCA SGCB SGCG

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

id Name GO ID Score Top Affiliating Genes
1 membrane organization GO:0061024 9.61 SGCA SGCB SGCG
2 sarcomere organization GO:0045214 9.46 CAPN3 TCAP
3 muscle contraction GO:0006936 9.46 CAV3 DYSF MYOT SGCA
4 positive regulation of proteolysis GO:0045862 9.4 CAPN3 TRIM32
5 plasma membrane repair GO:0001778 9.37 CAV3 DYSF
6 cardiac muscle cell development GO:0055013 9.32 CAV3 SGCB
7 detection of muscle stretch GO:0035995 9.26 CAV3 TCAP
8 muscle cell cellular homeostasis GO:0046716 9.13 CAPN3 CAV3 TRIM32
9 muscle organ development GO:0007517 9.02 CAPN3 CAV3 SGCA SGCB SGCG

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

id Name GO ID Score Top Affiliating Genes
1 protein complex scaffold GO:0032947 9.16 CAPN3 CAV3
2 titin binding GO:0031432 8.96 CAPN3 TCAP
3 structural constituent of muscle GO:0008307 8.8 CAPN3 MYOT TCAP

Sources for Limb-Girdle Muscular Dystrophy

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