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

Satoru Noguchi, Elizabeth M. McNally, Kamel Ben Othmane, Yasuko Hagiwara, Yuji Mizuno, Mikiharu Yoshida, Hideko Yamamoto, Carsten G. Bönnemann, Emanuela Gussoni, Peter H. Denton, Theodoros Kyriakides, Lefkos Middleton, Faycal Hentati, Mongi Ben Hamida, Ikuya Nonaka, Jeffery M. Vance, Louis M. Kunkel, Eijiro Ozawa

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454 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)819-822
Number of pages4
JournalScience
Volume270
Issue number5237
Publication statusPublished - 1995

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    Noguchi, S., McNally, E. M., Othmane, K. B., Hagiwara, Y., Mizuno, Y., Yoshida, M., Yamamoto, H., Bönnemann, C. G., Gussoni, E., Denton, P. H., Kyriakides, T., Middleton, L., Hentati, F., Hamida, M. B., Nonaka, I., Vance, J. M., Kunkel, L. M., & Ozawa, E. (1995). Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy. Science, 270(5237), 819-822.