LGMD
MCID: LMB006
MIFTS: 55

Limb-Girdle Muscular Dystrophy (LGMD) malady

Muscle category

Summaries for Limb-Girdle Muscular Dystrophy

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 cases of limb girdle muscular dystrophy are inherited in an autosomal recessive manner. rarely, autosomal dominant cases have been reported. 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 19 different types of limb-girdle muscular dystrophy. last updated: 11/1/2010

MalaCards: Limb-Girdle Muscular Dystrophy, also known as limb-girdle muscular dystrophy autosomal recessive, is related to miyoshi myopathy and calpainopathy. An important gene associated with Limb-Girdle Muscular Dystrophy is DYSF (dysferlin), and among its related pathways are Allograft rejection and Hypertrophic cardiomyopathy (HCM). The compound creatinine have been mentioned in the context of this disorder. Affiliated tissues include heart, smooth muscle and skeletal muscle, and related mouse phenotypes are homeostasis/metabolism and muscle.

Genetics Home Reference:21 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:64 Limb-girdle muscular dystrophy or Erb\'s muscular dystrophy is an autosomal class of muscular dystrophy... more...

Description from OMIM:47 613157, 608099, 159001, 253700, 613158 601287, 607801, 601954, 608807, 607155, 254110, 611307, 253601, 609308, 611588, 253600, 604286, 159000 more

GeneReviews summary for lgmd-overview

Aliases & Classifications for Limb-Girdle Muscular Dystrophy

Sources:
8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 61UMLS, 47OMIM, 35MeSH, 40NCIt, 57SNOMED-CT
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Muscle


Aliases & Descriptions:

limb-girdle muscular dystrophy 8 19 43 21 10
limb-girdle muscular dystrophy autosomal recessive 43 20 22 61
limb girdle muscular dystrophy 8 43 20 22
lgmd 19 21
muscular dystrophy, limb-girdle, autosomal recessive 45
muscular dystrophies, limb-girdle 61
leyden-mbius muscular dystrophy 8
muscular dystrophy, limb-girdle 8
muscular dystrophy limb-girdle 45
myopathic limb-girdle syndrome 21
lgmd- autosomal recessive 43
limb-girdle syndrome 21
limb girdle 45


Related Diseases for Limb-Girdle Muscular Dystrophy

Sources:
17GeneCards, 18GeneDecks
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Diseases in the limb-girdle muscular dystrophy type 2h family:

limb-girdle muscular dystrophy limb-girdle muscular dystrophy, type 2c
limb-girdle muscular dystrophy, type 2d limb-girdle muscular dystrophy type 2e
limb-girdle muscular dystrophy, type 1a limb-girdle muscular dystrophy, type 1b
limb-girdle muscular dystrophy, type 2b limb-girdle muscular dystrophy type 2f
limb-girdle muscular dystrophy, type 2g limb-girdle muscular dystrophy type 2i
limb-girdle muscular dystrophy type 1d limb-girdle muscular dystrophy type 1e
limb-girdle muscular dystrophy type 1c limb-girdle muscular dystrophy type 2k
limb-girdle muscular dystrophy type 2j limb-girdle muscular dystrophy type 2m
limb-girdle muscular dystrophy type 2o limb-girdle muscular dystrophy type 2n
limb-girdle muscular dystrophy type 1f limb-girdle muscular dystrophy type 1g
limb-girdle muscular dystrophy type 2q limb-girdle muscular dystrophy type 1h
limb-girdle muscular dystrophy type 2l muscular dystrophy, limb-girdle, type 2r

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

(show top 50)    (show all 114)
idRelated DiseaseScoreTop Affiliating Genes
1miyoshi myopathy31.2DYSF, CAPN3
2calpainopathy31.2SGCA, SGCG, SGCB, TCAP, LMNA, MYOT
3limb-girdle muscular dystrophy, type 2b31.1CAPN3, CAV3, DYSF, TRIM32, SGCA, SGCB
4limb-girdle muscular dystrophy type 2e31.1SGCA, SGCB, TCAP, TRIM32, DYSF, CAPN3
5limb-girdle muscular dystrophy, type 1a31.1TCAP, MYOT, TRIM32, DYSF, CAV3, CAPN3
6limb-girdle muscular dystrophy type 2f31.0SGCA, SGCG, SGCB, TCAP, TRIM32, DYSF
7becker muscular dystrophy31.0SGCA, FKTN, DYSF
8limb-girdle muscular dystrophy, type 1b31.0CAV3, LMNA
9limb-girdle muscular dystrophy type 2h31.0DYSF, CAPN3, TRIM32, TCAP
10limb-girdle muscular dystrophy type 1c31.0CAV3, DYSF
11limb-girdle muscular dystrophy, type 2g30.9TCAP, MYOT, DYSF, TRIM32, CAPN3
12limb-girdle muscular dystrophy type 2l30.9LGMD2L, ANO5
13mental retardation30.8POMT1, FKTN
14dysferlinopathy30.7DYSF
15muscular dystrophy-dystroglycanopathy , type c, 530.7TCAP, CAPN3, DYSF, TRIM32
16duchenne muscular dystrophy30.7SGCB, SGCA, CAV3, SGCD, TCAP, FKTN
17walker-warburg syndrome30.7POMT1, FKTN, SGCA
18distal muscular dystrophy30.4MYOT, DYSF, CAPN3, CAV3
19myofibrillar myopathy30.0MYOT
20limb-girdle muscular dystrophy type 2q10.7
21limb-girdle muscular dystrophy, type 2c10.7
22limb-girdle muscular dystrophy, type 2d10.7
23muscular atrophy10.7
24limb-girdle muscular dystrophy type 1e10.7
25muscular dystrophy-dystroglycanopathy , type c, 110.7
26autosomal dominant limb-girdle muscular dystrophy type 1h10.7
27emery-dreifuss muscular dystrophy10.6
28muscular dystrophy - late onset10.6
29limb-girdle muscular dystrophy type 2j10.6
30limb-girdle muscular dystrophy type 1g10.6
31autosomal dominant limb-girdle muscular dystrophy type 1g10.6
32autosomal dominant disease10.5
33spinal muscular atrophy10.5
34epidermolysa bullosa simplex with muscular dystrophy10.5
35sarcoglycanopathies10.5
36limb-girdle muscular dystrophies, autosomal dominant10.5
37autosomal dominant limb-girdle muscular dystrophy type 1f10.5
38bethlem myopathy10.5
39muscular dystrophy limb girdle type 2a, erb type10.5
40polymyositis10.5
41limb-girdle muscular dystrophy type 2i10.5
42limb-girdle muscular dystrophy type 1d10.5
43limb-girdle muscular dystrophy type 2k10.5
44limb-girdle muscular dystrophy type 2m10.5
45limb-girdle muscular dystrophy type 2o10.5
46limb-girdle muscular dystrophy type 2n10.5
47limb-girdle muscular dystrophy type 1f10.5
48limb-girdle muscular dystrophy type 1h10.5
49collagen type vi-related autosomal dominant limb-girdle muscular dystrophy10.5
50muscular dystrophy-dystroglycanopathy , type c, 310.5

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



Diseases related to limb-girdle muscular dystrophy

Clinical Features for Limb-Girdle Muscular Dystrophy

Sources:
47OMIM
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Drugs & Therapeutics for Limb-Girdle Muscular Dystrophy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Limb-Girdle Muscular Dystrophy

Drug clinical trials:

Search ClinicalTrials for Limb-Girdle Muscular Dystrophy

Search NIH Clinical Center for Limb-Girdle Muscular Dystrophy

Search CenterWatch for Limb-Girdle Muscular Dystrophy

Genetic Tests for Limb-Girdle Muscular Dystrophy

Sources:
20GeneTests, 22GTR
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Genetic tests related to Limb-Girdle Muscular Dystrophy:

id Genetic test Affiliating Genes
1 Limb-girdle Muscular Dystrophy20 22
2 Limb-girdle Muscular Dystrophy Multi-gene Panels20
3 Limb-girdle Muscular Dystrophies, Autosomal Recessive20 22 TTN

Anatomical Context for Limb-Girdle Muscular Dystrophy

Sources:
33MalaCards
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MalaCards organs/tissues related to Limb-Girdle Muscular Dystrophy:

33
Heart, Smooth muscle, Skeletal muscle, Lung, Myeloid, Monocytes, Pituitary

Animal Models for Limb-Girdle Muscular Dystrophy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Limb-Girdle Muscular Dystrophy:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537610.3CAV3, DYSF, TRIM32, FKTN, LMNA, TCAP
2MP:000536910.2SGCA, CAPN3, CAV3, DYSF, TRIM32, POMT1
3MP:000538510.0CAPN3, CAV3, POMT1, LMNA, TCAP, SGCB

Publications for Limb-Girdle Muscular Dystrophy

Sources:
51PubMed
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Articles related to Limb-Girdle Muscular Dystrophy:

(show top 50)    (show all 380)
idTitleAuthorsYear
1
Limb-girdle muscular dystrophy type 2I is not rare in Taiwan. (23800702)
2013
2
Muscle phenotypic variability in limb girdle muscular dystrophy 2 G. (23479141)
2013
3
Muscle MRI findings in limb girdle muscular dystrophy type 2L. (22980763)
2012
4
Limb girdle muscular dystrophy type 2A in India: a study based on semi-quantitative protein analysis, with clinical and histopathological correlation. (20739790)
2010
5
How to tackle the diagnosis of limb-girdle muscular dystrophy 2A. (18854869)
2009
6
Cardiovascular magnetic resonance reveals similar damage to the heart of patients with Becker and limb-girdle muscular dystrophy but no cardiac symptoms. (19787739)
2009
7
R25G mutation in exon 1 of LMNA gene is associated with dilated cardiomyopathy and limb-girdle muscular dystrophy 1B. (20092787)
2009
8
Clinical and mutational spectrum of limb-girdle muscular dystrophy type 2I in 11 French patients. (19917824)
2009
9
NF-kappaB-dependent expression of the antiapoptotic factor c-FLIP is regulated by calpain 3, the protein involved in limb-girdle muscular dystrophy type 2A. (18073330)
2008
10
Gene expression profiling in limb-girdle muscular dystrophy 2A. (19015733)
2008
11
Correlations between clinical severity, genotype and muscle pathology in limb girdle muscular dystrophy type 2A. (17526799)
2007
12
A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12. (17008331)
2007
13
Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures. (16088906)
2005
14
Walker-Warburg syndrome and limb girdle muscular dystrophy; two sides of the same coin. (15792864)
2005
15
A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2. (12913210)
2003
16
Localization of calpain 3 in human skeletal muscle and its alteration in limb-girdle muscular dystrophy 2A muscle. (12801918)
2003
17
Limb-girdle muscular dystrophy. (12507416)
2003
18
Identification of lamin A/C (LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb- girdle muscular dystrophy 1B. (12032588)
2002
19
The gene for a novel glycosyltransferase is mutated in congenital muscular dystrophy MDC1C and limb girdle muscular dystrophy 2I. (11801394)
2002
20
Deficiency of the 50 kDa dystrophin-associated-glycoprotein (adhalin) in an Indian autosomal recessive limb girdle muscular dystrophy patient : immunochemical analysis and clinical aspects. (11303236)
2001
21
Autosomal dominant limb-girdle muscular dystrophy: a large kindred with evidence for anticipation. (11222786)
2001
22
Molecular analysis of p94 and its application to diagnosis of limb girdle muscular dystrophy type 2A. (10818750)
2000
23
Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy. (11134403)
2000
24
Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies). (11053681)
2000
25
Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B. (10508505)
1999
26
Autosomal dominant limb-girdle muscular dystrophy with ankle joint contracture. (10478586)
1999
27
Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population. (10102422)
1999
28
The genomic structure of DCTN1, a candidate gene for limb-girdle muscular dystrophy. (9805007)
1998
29
Generation of a 3-Mb PAC contig spanning the Miyoshi myopathy/limb-girdle muscular dystrophy (MM/LGMD2B) locus on chromosome 2p13. (9570945)
1998
30
The heart in limb girdle muscular dystrophy. (9505924)
1998
31
Evidence for anticipation in autosomal dominant limb-girdle muscular dystrophy. (9598725)
1998
32
Limb girdle muscular dystrophy: a prospective follow-up study of functional impairment. (9121503)
1997
33
Gene analysis in patients with muscular dystrophy: alpha-sarcoglycan (adhalin) gene mutations in patients with malignant limb-girdle muscular dystrophy]. (9120997)
1997
34
Obstetric aspects in women with facioscapulohumeral muscular dystrophy, limb-girdle muscular dystrophy, and congenital myopathies. (9236578)
1997
35
Cardiac arrhythmias as presenting symptoms in patients with limb-girdle muscular dystrophy. (9158168)
1997
36
Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins. (9150160)
1997
37
Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype. (8808603)
1996
38
Molecular cloning of mouse canp3, the gene associated with limb-girdle muscular dystrophy 2A in human. (8661728)
1996
39
Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD. (8776597)
1996
40
A primary expression map of the chromosome 15q15 region containing the recessive form of limb-girdle muscular dystrophy (LGMD2A) gene. (7633422)
1995
41
Limb-girdle muscular dystrophy: clinical and pathologic reevaluation. (7751838)
1995
42
Multimodal evoked potentials and electroretinography in limb girdle muscular dystrophy. (7737013)
1995
43
Limb girdle muscular dystrophy: weakness and disease duration as predictors of functional impairment. (8041394)
1994
44
Lung and respiratory muscle function in limb girdle muscular dystrophy. (8153942)
1994
45
Confirmation of linkage of limb-girdle muscular dystrophy, type 2, to chromosome 15. (1505977)
1992
46
Limb girdle muscular dystrophy with autosomal dominant inheritance. (2048397)
1991
47
Linkage analysis in families with autosomal recessive limb-girdle muscular dystrophy (LGMD) and 6q probes flanking the dystrophin-related sequence. (2012126)
1991
48
Differentiation of Becker muscular dystrophy from limb-girdle muscular dystrophy and Kugelberg-Welander disease using a cDNA probe. (2255288)
1990
49
Adult-onset autosomal dominant limb-girdle muscular dystrophy. (3752967)
1986
50
Limb-girdle muscular dystrophy: clinical manifestations and detection of preclinical disease. (5637795)
1968

Genetic Variations for Limb-Girdle Muscular Dystrophy

Expression for genes affiliated with Limb-Girdle Muscular Dystrophy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Limb-Girdle Muscular Dystrophy

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

Pathways for genes affiliated with Limb-Girdle Muscular Dystrophy

Sources:
30KEGG, 38NCBI BioSystems Database
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Pathways related to Limb-Girdle Muscular Dystrophy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.4SGCA, SGCD, SGCG, SGCB
2
Hide members
10.4SGCA, SGCD, SGCG, SGCB, LMNA

Compounds for genes affiliated with Limb-Girdle Muscular Dystrophy

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45Novoseek
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Compounds related to Limb-Girdle Muscular Dystrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1creatinine4510.4SGCA, LMNA, DYSF, CAV3, CAPN3

GO Terms for genes affiliated with Limb-Girdle Muscular Dystrophy

Sources:
16Gene Ontology
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Cellular components related to Limb-Girdle Muscular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1sarcolemmaGO:04238310.5CAV3, SGCD, SGCA, SGCG, SGCB, MYOT
2sarcoglycan complexGO:01601210.5SGCB, SGCG, SGCA, SGCD
3cytoskeletonGO:00585610.4SGCB, SGCG, SGCD, SGCA
4dystrophin-associated glycoprotein complexGO:01601010.4CAV3, SGCB, SGCD, SGCA
5Z discGO:03001810.3CAPN3, CAV3, MYOT, TCAP, DNAJB6
6T-tubuleGO:03031510.1CAPN3, CAV3, DYSF

Biological processes related to Limb-Girdle Muscular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1plasma membrane repairGO:00177810.5CAV3, DYSF
2muscle organ developmentGO:00751710.5SGCA, SGCD, SGCG, SGCB, LMNA, FKTN
3muscle cell cellular homeostasisGO:04671610.4CAV3, CAPN3
4protein localization to nucleusGO:03450410.4LMNA, DNAJB6
5sarcomere organizationGO:04521410.3TCAP, CAPN3
6positive regulation of proteolysisGO:04586210.1TRIM32, CAPN3

Molecular functions related to Limb-Girdle Muscular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein complex scaffoldGO:03294710.4CAV3, CAPN3
2structural constituent of muscleGO:00830710.3TCAP, MYOT, CAPN3
3titin bindingGO:03143210.1TCAP, CAPN3

Products for genes affiliated with Limb-Girdle Muscular Dystrophy

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Sources for Limb-Girdle Muscular Dystrophy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet