Mutations in the Dystrophin-Associated Protein γ-Sarcoglycan in Chromosome 13 Muscular Dystrophy
- 3 November 1995
- journal article
- other
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 270 (5237), 819-822
- https://doi.org/10.1126/science.270.5237.819
Abstract
Severe childhood autosomal recessive muscular dystrophy (SCARMD) is a progressive muscle-wasting disorder common in North Africa that segregates with microsatellite markers at chromosome 13q12. Here, it is shown that a mutation in the gene encoding the 35-kilodalton dystrophin-associated glycoprotein, γ-sarcoglycan, is likely to be the primary genetic defect in this disorder. The human γ-sarcoglycan gene was mapped to chromosome 13q12, and deletions that alter its reading frame were identified in three families and one of four sporadic cases of SCARMD. These mutations not only affect γ-sarcoglycan but also disrupt the integrity of the entire sarcoglycan complex.Keywords
This publication has 24 references indexed in Scilit:
- 30th and 31st ENMC international workshops, Naarden, The Netherlands, Held 6–8 January 1995Neuromuscular Disorders, 1995
- Linkage analysis of families with severe childhood autosomal recessive muscular dystrophy in Morocco indicates genetic homogeneity of the disease in north Africa.Journal of Medical Genetics, 1994
- Severe childhood autosomal recessive muscular dystrophy with the deficiency of the 50 kDa dystrophin-associated glycoprotein maps to chromosome 13q12Human Molecular Genetics, 1993
- Analysis of the actin-binding domain of alpha-actinin by mutagenesis and demonstration that dystrophin contains a functionally homologous domain.The Journal of cell biology, 1992
- Membrane organization of the dystrophin-glycoprotein complexCell, 1991
- Abstracts for the committee on the genetic constitution of chromosome 6Cytogenetic and Genome Research, 1991
- Duchenne‐like muscular dystrophy in the ArabsAmerican Journal of Medical Genetics, 1990
- Dystrophin: The protein product of the duchenne muscular dystrophy locusCell, 1987
- A cDNA clone from the Duchenne/Becker muscular dystrophy geneNature, 1987
- Severe childhood muscular dystrophy affecting both sexes and frequent in tunisiaMuscle & Nerve, 1983