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Article

Severe limb girdle muscular dystrophy in Spanish gypsies: further evidence for a founder mutation in the gamma-sarcoglycan gene.

European journal of human genetics : EJHG - 1 Jan 2000

Lasa A, Piccolo F, de Diego C, Jeanpierre M, Colomer J, Rodríguez M J, Urtizberea J A, Baiget M, Kaplan J, Gallano P

Abstract excerpt

Limb-girdle muscular dystrophy type 2C (LGMD2C) is an autosomal recessive muscular dystrophy with primary gamma-sarcoglycan deficiency, generally associated with a severe clinical course. gamma-sarcoglycan, a 35kDa dystrophin-associated protein, is encoded by a single gene on chromosome 13q12. Six different mutations have been described in that gene, and it has been proved they are the origin of the disease. One...

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Source

Identifiers

PMID: 9781048
DOI: 10.1038/sj.ejhg.5200197

Genes

DMD

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Severe limb girdle muscular dystrophy in Spanish gypsies: further evidence for a founder mutation in the gamma-sarcoglycan gene.PMID 9781048Read ↗

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Homogeneous phenotype of the gypsy limb-girdle MD with the gamma-sarcoglycan C283Y mutation.Semantic proximity Read ↗

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Neuromuscular disorders in the Gypsy ethnic group. A short review.Semantic proximity Read ↗

A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2F (LGMD2F) in Brazilian sarcoglycanopathies.Semantic proximity Read ↗

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