2. Academic Validation
  3. Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy

Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy

  • Science. 1995 Nov 3;270(5237):819-22. doi: 10.1126/science.270.5237.819.
S Noguchi 1,  E M McNally,  K Ben Othmane,  Y Hagiwara,  Y Mizuno,  M Yoshida,  H Yamamoto,  C G Bönnemann,  E Gussoni,  P H Denton,  T Kyriakides,  L Middleton,  F Hentati,  M Ben Hamida,  I Nonaka,  J M Vance,  L M Kunkel,  E Ozawa
Affiliations

Affiliation

  • 1 National Institute of Neuroscience, National Center for Neurology and Psychiatry, Tokyo, Japan.
PMID: 7481775 DOI: 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, gamma-sarcoglycan, is likely to be the primary genetic defect in this disorder. The human gamma-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 gamma-sarcoglycan but also disrupt the integrity of the entire sarcoglycan complex.

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