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. Si...
Topics
- Consanguinity
- Cytoskeletal Proteins
- Extremities
- Female
- Founder Effect
- Genetics, Population
- Homozygote
- Humans
- Male
- Membrane Glycoproteins
- Muscular Dystrophies
- Mutation, Missense
- Pedigree
- Phenotype
- Roma
- Sarcoglycans