LGMD
MCID: LMB006
MIFTS: 57

Limb-Girdle Muscular Dystrophy (LGMD) malady

Muscle diseases category

Summaries for Limb-Girdle Muscular Dystrophy

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 muscular dystrophy and myopathy. 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 skeletal muscle, heart and bone, 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:63 Limb-girdle muscular dystrophy or Erb\'s muscular dystrophy is an autosomal class of muscular dystrophy... more...

Description from OMIM:46 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

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8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 60UMLS, 46OMIM, 34MeSH, 39NCIt, 56SNOMED-CT
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Classifications:

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


Aliases & Descriptions:

limb-girdle muscular dystrophy 8 19 42 21 10
limb-girdle muscular dystrophy autosomal recessive 42 20 22 60
limb girdle muscular dystrophy 8 42 20 22
lgmd 19 21
muscular dystrophy, limb-girdle, autosomal recessive 44
muscular dystrophies, limb-girdle 60
leyden-mbius muscular dystrophy 8
muscular dystrophy, limb-girdle 8
muscular dystrophy limb-girdle 44
myopathic limb-girdle syndrome 21
lgmd- autosomal recessive 42
limb-girdle syndrome 21
limb girdle 44


Related Diseases for Limb-Girdle Muscular Dystrophy

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17GeneCards, 18GeneDecks
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Diseases in the Limb-Girdle Muscular Dystrophy, Type 2d family:

limb-girdle muscular dystrophy Limb-Girdle Muscular Dystrophy, Type 2c
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 2h 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
1muscular dystrophy32.3SGCA, SGCD, SGCG, SGCB, TCAP, LMNA
2myopathy31.4POMT1, DYSF, CAV3, CAPN3, FKTN, MYOT
3calpainopathy31.2LMNA, MYOT, TRIM32, DYSF, CAV3, CAPN3
4limb-girdle muscular dystrophy, type 2b31.1SGCA, SGCB, TCAP, MYOT, TRIM32, DYSF
5limb-girdle muscular dystrophy type 2e31.0TRIM32, DYSF, CAPN3, TCAP, SGCB, SGCA
6limb-girdle muscular dystrophy, type 1a31.0TCAP, MYOT, TRIM32, DYSF, CAV3, CAPN3
7limb-girdle muscular dystrophy type 2f31.0SGCA, SGCG, SGCB, TCAP, TRIM32, DYSF
8becker muscular dystrophy31.0DYSF, FKTN, SGCA
9limb-girdle muscular dystrophy, type 1b31.0CAV3, LMNA
10limb-girdle muscular dystrophy type 2h30.9CAPN3, DYSF, TRIM32, TCAP
11limb-girdle muscular dystrophy type 1c30.9DYSF, CAV3
12limb-girdle muscular dystrophy, type 2g30.8CAPN3, DYSF, TRIM32, MYOT, TCAP
13limb-girdle muscular dystrophy type 2l30.8ANO5, LGMD2L
14dysferlinopathy30.7DYSF
15duchenne muscular dystrophy30.7CAV3, FKTN, TCAP, SGCB, SGCD, SGCA
16muscular dystrophy-dystroglycanopathy , type c, 530.6CAPN3, DYSF, TRIM32, TCAP
17walker-warburg syndrome30.6SGCA, FKTN, POMT1
18myositis30.6DYSF, CAPN3
19dilated cardiomyopathy30.4LMNA, TCAP, SGCD, SGCA
20distal muscular dystrophy30.4MYOT, DYSF, CAV3, CAPN3
21myofibrillar myopathy30.0MYOT
22congenital muscular dystrophy10.7
23limb-girdle muscular dystrophy type 2q10.7
24limb-girdle muscular dystrophy, type 2c10.7
25limb-girdle muscular dystrophy, type 2d10.7
26muscular atrophy10.6
27limb-girdle muscular dystrophy type 1e10.6
28muscular dystrophy-dystroglycanopathy , type c, 110.6
29autosomal dominant limb-girdle muscular dystrophy type 1h10.6
30emery-dreifuss muscular dystrophy10.6
31limb-girdle muscular dystrophy type 2j10.6
32limb-girdle muscular dystrophy type 1g10.6
33autosomal dominant limb-girdle muscular dystrophy type 1g10.6
34autosomal dominant disease10.5
35spinal muscular atrophy10.5
36epidermolysa bullosa simplex with muscular dystrophy10.5
37limb-girdle muscular dystrophies, autosomal dominant10.5
38autosomal dominant limb-girdle muscular dystrophy type 1f10.5
39bethlem myopathy10.4
40myotonic dystrophy10.4
41respiratory failure10.4
42dystrophinopathies10.4
43muscular dystrophy limb girdle type 2a, erb type10.4
44limb-girdle muscular dystrophy type 2i10.4
45limb-girdle muscular dystrophy type 1d10.4
46limb-girdle muscular dystrophy type 2k10.4
47limb-girdle muscular dystrophy type 2m10.4
48limb-girdle muscular dystrophy type 2o10.4
49limb-girdle muscular dystrophy type 2n10.4
50limb-girdle muscular dystrophy type 1f10.4

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

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46OMIM
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Drugs & Therapeutics for Limb-Girdle Muscular Dystrophy

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Genetic Tests for Limb-Girdle Muscular Dystrophy

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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

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32MalaCards
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MalaCards organs/tissues related to Limb-Girdle Muscular Dystrophy:

32
Skeletal muscle, Heart, Bone, Testes, Smooth muscle, Lung, Myeloid, Monocytes, Pituitary

Animal Models for Limb-Girdle Muscular Dystrophy or affiliated genes

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MGI Mouse Phenotypes related to Limb-Girdle Muscular Dystrophy:

36
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

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50PubMed
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Articles related to Limb-Girdle Muscular Dystrophy:

(show top 50)    (show all 399)
idTitleAuthorsYear
1
Laparoscopic cholecystectomy under spinal anesthesia in a patient with limb-girdle muscular dystrophy. (24052328)
2013
2
A cardiomyopathy in a patient with limb girdle muscular dystrophy type 2A. (23322878)
2013
3
A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation. (23541687)
2013
4
Inflammatory Changes in Limb Girdle Muscular Dystrophy Type 2I. (24257234)
2013
5
Multisystem disorder and limb girdle muscular dystrophy caused by LMNA p.R28W mutation. (23746545)
2013
6
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of I+-dystroglycan. (23768512)
2013
7
Cytoskeletal and extracellular matrix alterations in limb girdle muscular dystrophy 2I muscle fibers. (23135029)
2012
8
The diagnostic utility of a commercial limb-girdle muscular dystrophy gene test panel. (23172390)
2012
9
Frequency of the FKRP mutation c.826C>A in isolated hyperCKemia and in limb girdle muscular dystrophy type 2 in German patients. (19820980)
2010
10
Two siblings with limb-girdle muscular dystrophy type 2E responsive to deflazacort. (20071171)
2010
11
Heart transplantation in 7 patients from a single family with limb-girdle muscular dystrophy caused by lamin A/C mutation. (19446900)
2009
12
Limb-girdle muscular dystrophy type 2A can result from accelerated autoproteolytic inactivation of calpain 3. (19226146)
2009
13
A proteomic study of calpain-3 and its involvement in limb girdle muscular dystrophy type 2a. (19926129)
2009
14
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. (17994539)
2008
15
Correlations between clinical severity, genotype and muscle pathology in limb girdle muscular dystrophy type 2A. (17526799)
2007
16
Anaesthetic management of a woman with autosomal recessive limb-girdle muscular dystrophy for emergency caesarean section. (17643284)
2007
17
Molecular and cellular basis of calpainopathy (limb girdle muscular dystrophy type 2A). (16934440)
2007
18
Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures. (16088906)
2005
19
Pathological changes of the myonuclear fibrous lamina and internal nuclear membrane in two cases of autosomal dominant limb-girdle muscular dystrophy with atrioventricular conduction disturbance (LGMD1B). (14673599)
2004
20
The congenital and limb-girdle muscular dystrophies: sharpening the focus, blurring the boundaries. (14967765)
2004
21
Limb-girdle muscular dystrophy. (12507416)
2003
22
The gene for a novel glycosyltransferase is mutated in congenital muscular dystrophy MDC1C and limb girdle muscular dystrophy 2I. (11801394)
2002
23
Normal calpain expression in genetically confirmed limb-girdle muscular dystrophy type 2A. (11245732)
2001
24
Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation. (10766988)
2000
25
Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy. (10993494)
2000
26
Molecular analysis of p94 and its application to diagnosis of limb girdle muscular dystrophy type 2A. (10818750)
2000
27
Vaginal delivery in a woman with limb-girdle muscular dystrophy. A case report. (10900585)
2000
28
Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies). (11053681)
2000
29
Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B. (10508505)
1999
30
A radiation hybrid breakpoint map of the acute myeloid leukemia (AML) and limb-girdle muscular dystrophy 1A (LGMD1A) regions of chromosome 5q31 localizing 122 expressed sequences. (10191080)
1999
31
Autosomal dominant limb-girdle muscular dystrophy with ankle joint contracture. (10478586)
1999
32
Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IkappaB alpha/NF-kappaB pathway in limb-girdle muscular dystrophy type 2A. (10229226)
1999
33
The genomic structure of DCTN1, a candidate gene for limb-girdle muscular dystrophy. (9805007)
1998
34
Generation of a 3-Mb PAC contig spanning the Miyoshi myopathy/limb-girdle muscular dystrophy (MM/LGMD2B) locus on chromosome 2p13. (9570945)
1998
35
Exclusion of identified LGMD1 loci from four dominant limb-girdle muscular dystrophy families. (9694248)
1998
36
A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. (9731527)
1998
37
Laminin alpha 2-chain gene mutations in two siblings presenting with limb-girdle muscular dystrophy. (9829280)
1998
38
Use of a CEPH meiotic breakpoint panel to refine the locus of limb-girdle muscular dystrophy type 1A (LGMD1A) to a 2-Mb interval on 5q31. (9828127)
1998
39
Limb-girdle muscular dystrophy in Guipuzcoa (Basque Country, Spain). (9762961)
1998
40
DNA studies of limb-girdle muscular dystrophy type 2A in the Amish exclude a modifying mitochondrial gene and show no evidence for a modifying nuclear gene. (9246005)
1997
41
A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey. (9266733)
1997
42
Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins. (9150160)
1997
43
Molecular cloning of mouse canp3, the gene associated with limb-girdle muscular dystrophy 2A in human. (8661728)
1996
44
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
45
A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy. (8528203)
1995
46
Cardiomyopathy of limb-girdle muscular dystrophy. (7930257)
1994
47
Mapping of a chromosome 15 region involved in limb girdle muscular dystrophy. (8004096)
1994
48
Linkage analysis in families with autosomal recessive limb-girdle muscular dystrophy (LGMD) and 6q probes flanking the dystrophin-related sequence. (2012126)
1991
49
Adult-onset autosomal dominant limb-girdle muscular dystrophy. (3752967)
1986
50
A late autosomal dominant form of limb-girdle muscular dystrophy. A clinical, genetic, and morphological study. (4426323)
1974

Genetic Variations for Limb-Girdle Muscular Dystrophy

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Expression for genes affiliated with Limb-Girdle Muscular Dystrophy

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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

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29KEGG, 37NCBI 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
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10.4SGCA, SGCD, SGCG, SGCB
2
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10.4SGCA, SGCD, SGCG, SGCB, LMNA

Compounds for genes affiliated with Limb-Girdle Muscular Dystrophy

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44Novoseek
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Compounds related to Limb-Girdle Muscular Dystrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1creatinine4410.4SGCA, LMNA, DYSF, CAV3, CAPN3

GO Terms for genes affiliated with Limb-Girdle Muscular Dystrophy

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

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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
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50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
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