Mutations in the Dystrophin-Associated Protein γ-Sarcoglycan in Chromosome 13 Muscular Dystrophy

@inproceedings{Noguchi1995MutationsIT,
  title={Mutations in the Dystrophin-Associated Protein γ-Sarcoglycan in Chromosome 13 Muscular Dystrophy},
  author={Shiro Noguchi and E. M. McNally and Kamel Ben Othmane and Yasuko Hagiwara and Yuji Mizuno and Mikiharu Yoshida and Hideko Yamamoto and Carsten G B{\"o}nnemann and Emanuela Gussoni and Peter H. Denton and Theodoros Kyriakides and Lefkos Middleton and Fayçal Hentati and Mongi Ben Hamida and Ikuya Nonaka and Jeffery M. Vance and Louis M. Kunkel and Eijiro Ozawa},
  year={1995}
}
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… CONTINUE READING

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