LGMD
MCID: LMB006
MIFTS: 60

Limb-Girdle Muscular Dystrophy (LGMD) malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases categories

Summaries for Limb-Girdle Muscular Dystrophy

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22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 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 miyoshi 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 behavior/neurological and cardiovascular system.

Genetics Home Reference:22 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:66 Limb-girdle muscular dystrophy or Erb\'s muscular dystrophy is an autosomal class of muscular dystrophy... more...

Description from OMIM:48 608099, 253700, 608807, 613158, 159000 253601, 254110, 613157, 601954, 607155, 601287, 611307, 611588, 253600, 607801, 604286, 159001, 609308 more

GeneReviews summary for lgmd-overview

Aliases & Classifications for Limb-Girdle Muscular Dystrophy

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9Disease Ontology, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 11DISEASES, 46Novoseek, 63UMLS, 48OMIM, 36MeSH, 59SNOMED-CT, 41NCIt
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Muscle diseases


Aliases & Descriptions:

limb-girdle muscular dystrophy 9 20 44 22 11
limb-girdle muscular dystrophy autosomal recessive 44 21 23 63
limb girdle muscular dystrophy 9 44 21 23
lgmd 20 22
muscular dystrophy, limb-girdle, autosomal recessive 46
muscular dystrophies, limb-girdle 63
leyden-mbius muscular dystrophy 9
muscular dystrophy, limb-girdle 9
myopathic limb-girdle syndrome 22
muscular dystrophy limb-girdle 46
lgmd- autosomal recessive 44
limb-girdle syndrome 22
limb girdle 46


Related Diseases for Limb-Girdle Muscular Dystrophy

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18GeneCards, 19GeneDecks
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Diseases in the Limb-Girdle Muscular Dystrophy, Type 2d family:

limb-girdle muscular dystrophy Limb-Girdle Muscular Dystrophy Type 2e
Limb-Girdle Muscular Dystrophy Type 2f Limb-Girdle Muscular Dystrophy Type 2h
Limb-Girdle Muscular Dystrophy, Type 1a Limb-Girdle Muscular Dystrophy, Type 1b
Limb-Girdle Muscular Dystrophy, Type 2b Limb-Girdle Muscular Dystrophy, Type 2c
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 112)
idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy32.5TRIM32
2miyoshi myopathy31.3DYSF
3limb-girdle muscular dystrophy, type 2b31.2SGCA, SGCB, MYOT, TCAP, DYSF, TRIM32
4myopathy31.1SGCA, SGCG, SGCB, LMNA, MYOT, TCAP
5limb-girdle muscular dystrophy, type 1a31.1TRIM32, DYSF, TCAP, MYOT
6limb-girdle muscular dystrophy type 2e31.1SGCA, SGCB, TCAP, DYSF, TRIM32
7limb-girdle muscular dystrophy type 2h31.1TCAP, DYSF, TRIM32
8limb-girdle muscular dystrophy type 2f30.9SGCA, SGCG, SGCB, TCAP, DYSF, TRIM32
9becker muscular dystrophy30.9DYSF, SGCA
10calpainopathy30.9SGCA, SGCG, SGCB, LMNA, MYOT, TCAP
11limb-girdle muscular dystrophy, type 2g30.9MYOT, TCAP, DYSF, TRIM32
12muscular dystrophy-dystroglycanopathy , type c, 530.6TRIM32, DYSF, TCAP
13duchenne muscular dystrophy30.4SGCA, SGCB, TCAP
14dilated cardiomyopathy30.3TCAP, LMNA, SGCA
15limb-girdle muscular dystrophy, type 2c10.9
16limb-girdle muscular dystrophy type 2i10.9
17limb-girdle muscular dystrophy, type 1b10.8
18limb-girdle muscular dystrophy, type 2d10.8
19limb-girdle muscular dystrophy type 2q10.7
20limb-girdle muscular dystrophy type 1c10.7
21limb-girdle muscular dystrophy type 2l10.7
22limb-girdle muscular dystrophy type 1e10.7
23limb-girdle muscular dystrophy type 1f10.7
24muscular dystrophy-dystroglycanopathy , type c, 110.7
25autosomal dominant limb-girdle muscular dystrophy type 1h10.7
26emery-dreifuss muscular dystrophy10.6
27sarcoglycanopathies10.6
28limb-girdle muscular dystrophy type 2j10.6
29limb-girdle muscular dystrophy type 1g10.6
30autosomal dominant limb-girdle muscular dystrophy type 1g10.6
31muscular atrophy10.6
32congenital muscular dystrophy10.6
33spinal muscular atrophy10.6
34dysferlinopathy10.6
35epidermolysa bullosa simplex with muscular dystrophy10.6
36limb-girdle muscular dystrophies, autosomal dominant10.6
37mental retardation10.6
38limb-girdle muscular dystrophy type 2o10.6
39autosomal recessive limb-girdle muscular dystrophy due to ispd deficiency10.6
40bethlem myopathy10.5
41walker-warburg syndrome10.5
42myositis10.5
43myotonic dystrophy10.5
44respiratory failure10.5
45dystrophinopathies10.5
46muscular dystrophy limb girdle type 2a, erb type10.5
47polymyositis10.5
48limb-girdle muscular dystrophy type 1d10.5
49limb-girdle muscular dystrophy type 2k10.5
50limb-girdle muscular dystrophy type 2m10.5

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



Diseases related to limb-girdle muscular dystrophy

Symptoms for Limb-Girdle Muscular Dystrophy

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48OMIM
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Drugs & Therapeutics for Limb-Girdle Muscular Dystrophy

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Limb-Girdle Muscular Dystrophy

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Genetic Tests for Limb-Girdle Muscular Dystrophy

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21GeneTests, 23GTR
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Genetic tests related to Limb-Girdle Muscular Dystrophy:

id Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy21 23
2 Limb-Girdle Muscular Dystrophy Multi-Gene Panels21
3 Limb-Girdle Muscular Dystrophies, Autosomal Recessive21 23 TTN

Anatomical Context for Limb-Girdle Muscular Dystrophy

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34MalaCards
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MalaCards organs/tissues related to Limb-Girdle Muscular Dystrophy:

34
Skeletal muscle, Heart, Bone, Testes, Lung, Smooth muscle, 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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.8TRIM32, DYSF, TCAP, LMNA, SGCG
2MP:00053857.5SGCA, SGCG, SGCB, LMNA, TCAP
3MP:00053767.3SGCA, SGCG, LMNA, TCAP, DYSF, TRIM32
4MP:00053696.9TRIM32, SGCA, SGCG, SGCB, LMNA, TCAP

Publications for Limb-Girdle Muscular Dystrophy

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53PubMed
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Articles related to Limb-Girdle Muscular Dystrophy:

(show top 50)    (show all 390)
idTitleAuthorsYear
1
Restriction of calpain3 expression to the skeletal muscle prevents cardiac toxicity and corrects pathology in a murine model of limb-girdle muscular dystrophy. (23908349)
2013
2
A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies. (23687351)
2013
3
Exome sequencing as a diagnostic tool to identify a causal mutation in genetically highly heterogeneous limb-girdle muscular dystrophy. (23677060)
2013
4
Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. (23830518)
2013
5
Muscle Atrophy in Limb Girdle Muscular Dystrophy 2a: a Morphometric and Molecular Study. (23414389)
2013
6
Satellite cell senescence underlies myopathy in a mouse model of limb-girdle muscular dystrophy 2H. (22505452)
2012
7
Late-onset autosomal dominant limb girdle muscular dystrophy and Paget's disease of bone unlinked to the VCP gene locus. (20116073)
2010
8
Frequency of the FKRP mutation c.826C>A in isolated hyperCKemia and in limb girdle muscular dystrophy type 2 in German patients. (19820980)
2010
9
A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H. (20068593)
2010
10
Sarcolemmal neuronal nitric oxide synthase defect in limb-girdle muscular dystrophy: an adverse modulating factor in the disease course? (19287313)
2009
11
Diagnosis of limb-girdle muscular dystrophy 2A by immunohistochemical techniques. (18031465)
2008
12
Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis. (17897828)
2008
13
Solution structure of the inner DysF domain of myoferlin and implications for limb girdle muscular dystrophy type 2b. (18495154)
2008
14
Dysferlin expression in limb-girdle muscular dystrophy and Miyoshi myopathy: analysis of 45 cases]. (17785089)
2007
15
High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark. (16634037)
2006
16
A novel mutation in two families with limb-girdle muscular dystrophy type 2C. (16832103)
2006
17
The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations. (15580560)
2005
18
The clinical spectrum of limb-girdle muscular dystrophies type 2I in cases of a mutation in the "fukutin-related- protein"-gene]. (15221067)
2004
19
Limb-girdle muscular dystrophies--from genetics to molecular pathology. (15043707)
2004
20
Respiratory function in congenital muscular dystrophy and limb girdle muscular dystrophy 2I. (14872048)
2004
21
A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2. (12913210)
2003
22
Localization of calpain 3 in human skeletal muscle and its alteration in limb-girdle muscular dystrophy 2A muscle. (12801918)
2003
23
Recent advances in limb-girdle muscular dystrophy research]. (12235836)
2001
24
Pathophysiology of limb girdle muscular dystrophy type 2A: hypothesis and new insights into the IkappaBalpha/NF-kappaB survival pathway in skeletal muscle. (11485017)
2001
25
Mutations in calpain 3 associated with limb girdle muscular dystrophy: analysis by molecular modeling and by mutation in m-calpain. (11371436)
2001
26
Dysferlin protein analysis in limb-girdle muscular dystrophies. (11665864)
2001
27
Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. (11741828)
2001
28
Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation. (10766988)
2000
29
Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. (10655062)
2000
30
Correlation of clinical function and muscle CT scan images in limb-girdle muscular dystrophy. (11382199)
2000
31
Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B. (10508505)
1999
32
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
33
The genomic structure of DCTN1, a candidate gene for limb-girdle muscular dystrophy. (9805007)
1998
34
Prenatal diagnosis of limb-girdle muscular dystrophy type 2C. (9885023)
1998
35
Generation of a 3-Mb PAC contig spanning the Miyoshi myopathy/limb-girdle muscular dystrophy (MM/LGMD2B) locus on chromosome 2p13. (9570945)
1998
36
Myophosphorylase deficiency and limb-girdle muscular dystrophy in the same pedigree. (9858109)
1998
37
The sarcoglycan complex in limb-girdle muscular dystrophy. (9847993)
1998
38
Limb girdle muscular dystrophy: a prospective follow-up study of functional impairment. (9121503)
1997
39
Absence of calpain 3 in a form of limb-girdle muscular dystrophy (LGMD2A). (9077514)
1997
40
Limb-girdle muscular dystrophy 2C: clinical aspects. (9027861)
1996
41
The phenotype of chromosome 2p-linked limb-girdle muscular dystrophy. (9027859)
1996
42
Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype. (8808603)
1996
43
Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E). (8968749)
1996
44
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. (8841194)
1996
45
Myotonic dystrophy and limb girdle muscular dystrophy in one family. (8086779)
1994
46
A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage. (1901754)
1991
47
Adult onset limb-girdle muscular dystrophy with autosomal dominant inheritance. (2740412)
1989
48
Becker and limb-girdle muscular dystrophy associated with pituitary dwarfism. (3655848)
1987
49
Lymphocyte capping in limb-girdle muscular dystrophy: patients and carriers in an Amish isolate. (7114089)
1982
50
Limb-girdle muscular dystrophy: clinical manifestations and detection of preclinical disease. (5637795)
1968

Variations for Limb-Girdle Muscular Dystrophy

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Expression for genes affiliated with Limb-Girdle Muscular Dystrophy

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2BioGPS, 16Gene 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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51PathCards, 31KEGG, 39NCBI BioSystems Database, 54QIAGEN
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Pathways related to Limb-Girdle Muscular Dystrophy according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.2SGCB, SGCG, SGCA
2
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy39
8.6LMNA, SGCB, SGCG, SGCA

Compounds for genes affiliated with Limb-Girdle Muscular Dystrophy

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46Novoseek
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Compounds related to Limb-Girdle Muscular Dystrophy according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1creatinine469.1DYSF, LMNA, SGCA

GO Terms for genes affiliated with Limb-Girdle Muscular Dystrophy

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17Gene Ontology
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Cellular components related to Limb-Girdle Muscular Dystrophy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1dystrophin-associated glycoprotein complexGO:0160109.5SGCB, SGCA
2sarcoglycan complexGO:0160129.2SGCA, SGCG, SGCB
3Z discGO:0300189.1TCAP, MYOT
4cytoskeletonGO:0058568.9SGCB, SGCG, SGCA
5sarcolemmaGO:0423838.4DYSF, MYOT, SGCB, SGCG, SGCA

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

idNameGO IDScoreTop Affiliating Genes
1muscle contractionGO:0069369.6MYOT, SGCA
2muscle organ developmentGO:0075178.3LMNA, SGCB, SGCG, SGCA

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

idNameGO IDScoreTop Affiliating Genes
1structural constituent of muscleGO:0083078.8TCAP, MYOT
2protein bindingGO:0055157.2TRIM32, DYSF, TCAP, MYOT, LMNA, SGCG

Products for genes affiliated with Limb-Girdle Muscular Dystrophy

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Sources for Limb-Girdle Muscular Dystrophy

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet