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 testes, 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, 21Genetics Home Reference, 10DISEASES, 20GeneTests, 22GTR, 60UMLS, 44Novoseek, 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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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

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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, Testes, Bone, Lung, Myeloid, Monocytes, Pituitary, Smooth muscle

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
Exome sequencing as a diagnostic tool to identify a causal mutation in genetically highly heterogeneous limb-girdle muscular dystrophy. (23677060)
2013
2
Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B. (23243261)
2013
3
Dysferlin aggregation in limb-girdle muscular dystrophy type 2B/Miyoshi Myopathy necessitates mutational screen for diagnosis [corrected]. (23519732)
2013
4
Limb-girdle muscular dystrophy type 2I is not rare in Taiwan. (23800702)
2013
5
Anaesthetic management of a patient with limb-girdle muscular dystrophy for laparoscopic cholecystectomy. (20962653)
2011
6
A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A). (21336781)
2011
7
A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy. (21186264)
2011
8
Late-onset autosomal dominant limb girdle muscular dystrophy and Paget's disease of bone unlinked to the VCP gene locus. (20116073)
2010
9
C283Y mutation in the gamma-sarcoglycan gene in Greek Gypsies with severe limb girdle muscular dystrophy. (20345928)
2010
10
Efficient identification of novel mutations in patients with limb girdle muscular dystrophy. (20623375)
2010
11
Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy. (21109228)
2010
12
Identification of a lamin A/C gene mutation in a Taiwanese family with limb girdle muscular dystrophy and cardiomyopathy. (20615561)
2010
13
Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H. (19303295)
2009
14
Nuclear changes in skeletal muscle extend to satellite cells in autosomal dominant Emery-Dreifuss muscular dystrophy/limb-girdle muscular dystrophy 1B. (19070492)
2009
15
Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant. (18195152)
2008
16
Mutations of CAPN3 in Korean patients with limb-girdle muscular dystrophy. (17596655)
2007
17
A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12. (17008331)
2007
18
A novel mutation in limb girdle muscular dystrophy. (18035816)
2007
19
Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A. (18055493)
2007
20
Muscle protein analysis in the detection of heterozygotes for recessive limb girdle muscular dystrophy type 2B and 2E. (16934466)
2006
21
Clinical and molecular characterization of patients with limb-girdle muscular dystrophy type 2I. (16344347)
2005
22
The RAGE pathway in inflammatory myopathies and limb girdle muscular dystrophy. (15986224)
2005
23
FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients. (15060126)
2004
24
Mutations in calpain 3 associated with limb girdle muscular dystrophy: analysis by molecular modeling and by mutation in m-calpain. (11371436)
2001
25
The ABC's of limb-girdle muscular dystrophy: alpha-sarcoglycanopathy, Bethlem myopathy, calpainopathy and more. (11562567)
2001
26
Intrafamilial phenotypic variation in limb-girdle muscular dystrophy type 2C with compound heterozygous mutations. (10797406)
2000
27
Myotilin is mutated in limb girdle muscular dystrophy 1A. (10958653)
2000
28
Phase I clinical trial utilizing gene therapy for limb girdle muscular dystrophy: alpha-, beta-, gamma-, or delta-sarcoglycan gene delivered with intramuscular instillations of adeno-associated vectors. (10757357)
2000
29
Spin-lock magnetic resonance imaging of muscle in patients with autosomal recessive limb girdle muscular dystrophy. (10800259)
2000
30
Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy. (11001938)
2000
31
Calcium homeostasis and ultrastructural studies in a patient with limb girdle muscular dystrophy type 2C. (10417666)
1999
32
Caveolin-3 deficiency as a cause of limb-girdle muscular dystrophy. (10223848)
1999
33
The sarcoglycan complex in limb-girdle muscular dystrophy. (9847993)
1998
34
The heart in limb girdle muscular dystrophy. (9505924)
1998
35
The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12. (9245996)
1997
36
Limb girdle muscular dystrophy in Manitoba Hutterites does not map to any of the known LGMD loci. (9332671)
1997
37
The phenotype of chromosome 2p-linked limb-girdle muscular dystrophy. (9027859)
1996
38
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. (8841194)
1996
39
Limb-girdle muscular dystrophy: a follow-up study of 79 patients. (8899051)
1996
40
The clinical spectrum of limb girdle muscular dystrophy. A survey in The Netherlands. (8931572)
1996
41
Prenatal diagnosis of limb-girdle muscular dystrophy type 2A. (8784805)
1996
42
A newly recognized autosomal dominant limb girdle muscular dystrophy with cardiac involvement. (8619549)
1996
43
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. (7720071)
1995
44
Bethlem myopathy is not allelic to limb-girdle muscular dystrophy type 1A. (8533815)
1995
45
Limb-girdle muscular dystrophy: clinical and pathologic reevaluation. (7751838)
1995
46
Adhalin gene mutations and autosomal recessive limb-girdle muscular dystrophy. (7668818)
1995
47
Limb girdle muscular dystrophy: a quantitative electromyographic study. (8785932)
1995
48
Genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy in a genetic isolate (Amish) and evidence for a new locus. (7795603)
1995
49
Limb-Girdle Muscular Dystrophy Overview (20301582)
1993
50
Confirmation of linkage of limb-girdle muscular dystrophy, type 2, to chromosome 15. (1505977)
1992

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
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
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