MCID: LMB015
MIFTS: 21

Limb-Girdle Muscular Dystrophy Type 2e malady

Genetic diseases, Rare diseases, Muscle diseases, Neuronal diseases categories
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Summaries for Limb-Girdle Muscular Dystrophy Type 2e

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MalaCards based summary: Limb-Girdle Muscular Dystrophy Type 2e, also known as muscular dystrophy limb-girdle with beta-sarcoglycan deficiency, is related to limb-girdle muscular dystrophy and muscular dystrophy. An important gene associated with Limb-Girdle Muscular Dystrophy Type 2e is SGCB (sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)).

Aliases & Classifications for Limb-Girdle Muscular Dystrophy Type 2e

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Limb-Girdle Muscular Dystrophy Type 2e, Aliases & Descriptions:

Name: Limb-Girdle Muscular Dystrophy Type 2e 42
Muscular Dystrophy Limb-Girdle with Beta-Sarcoglycan Deficiency 42 62
Beta-Sarcoglycan Limb-Girdle Muscular Dystrophy 42 62
 
Limb-Girdle Muscular Dystrophy, Type 2e 62
Lgmd2e 42


Classifications:

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


Related Diseases for Limb-Girdle Muscular Dystrophy Type 2e

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Symptoms for Limb-Girdle Muscular Dystrophy Type 2e

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Drugs & Therapeutics for Limb-Girdle Muscular Dystrophy Type 2e

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Drug clinical trials:

Search ClinicalTrials for Limb-Girdle Muscular Dystrophy Type 2e

Search NIH Clinical Center for Limb-Girdle Muscular Dystrophy Type 2e

Genetic Tests for Limb-Girdle Muscular Dystrophy Type 2e

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Anatomical Context for Limb-Girdle Muscular Dystrophy Type 2e

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Animal Models for Limb-Girdle Muscular Dystrophy Type 2e or affiliated genes

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Publications for Limb-Girdle Muscular Dystrophy Type 2e

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Articles related to Limb-Girdle Muscular Dystrophy Type 2e:

idTitleAuthorsYear
1
Two siblings with limb-girdle muscular dystrophy type 2E responsive to deflazacort. (20071171)
2010
2
Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures. (16088906)
2005
3
Disruption of the beta-sarcoglycan gene reveals pathogenetic complexity of limb-girdle muscular dystrophy type 2E. (10678176)
2000
4
Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E). (8968749)
1996

Variations for Limb-Girdle Muscular Dystrophy Type 2e

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Expression for genes affiliated with Limb-Girdle Muscular Dystrophy Type 2e

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Expression patterns in normal tissues for genes affiliated with Limb-Girdle Muscular Dystrophy Type 2e

Search GEO for disease gene expression data for Limb-Girdle Muscular Dystrophy Type 2e.

Pathways for genes affiliated with Limb-Girdle Muscular Dystrophy Type 2e

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Compounds for genes affiliated with Limb-Girdle Muscular Dystrophy Type 2e

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GO Terms for genes affiliated with Limb-Girdle Muscular Dystrophy Type 2e

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Cellular components related to Limb-Girdle Muscular Dystrophy Type 2e according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmGO:0057379.1SGCB, SPATA18

Products for genes affiliated with Limb-Girdle Muscular Dystrophy Type 2e

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  • Antibodies
  • Proteins
  • Lysates

Sources for Limb-Girdle Muscular Dystrophy Type 2e

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet