β-Sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

C. G. Bonnemann, R. Modi, S. Noguchi, Y. Mizuno, M. Yoshida, E. Gussoni, E. M. McNally, D. J. Duggan, C. Angelini, E. P. Hoffman, E. Ozawa, L. M. Kunkel

Research output: Contribution to journalArticle

Abstract

The dystrophin associated proteins (DAPs) are good candidates for harboring primary mutations in the genetically heterogeneous autosomal recessive muscular dystrophies (ARMD). The transmembrane components of the DAPs can be separated into the dystroglycan and the sarcoglycan complexes. Here we report the isolation of cDNAs encoding the 43 kD sarcoglycan protein β-sarcoglycan (A3b) and the localization of the human gene to chromosome 4q12. We describe a young girl with ARMD with truncating mutations on both alleles. Immunostaining of her muscle biopsy shows specific loss of the components of the sarcoglycan complex (β-sarcoglycan, α-sarcoglycan (adhalin), and 35 kD sarcoglycan). Thus secondary destabilization of the sarcoglycan complex may be an important pathophysiological event in ARMD.

Original languageEnglish
Pages (from-to)266-273
Number of pages8
JournalNature Genetics
Volume11
Issue number3
Publication statusPublished - 1995

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Bonnemann, C. G., Modi, R., Noguchi, S., Mizuno, Y., Yoshida, M., Gussoni, E., McNally, E. M., Duggan, D. J., Angelini, C., Hoffman, E. P., Ozawa, E., & Kunkel, L. M. (1995). β-Sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex. Nature Genetics, 11(3), 266-273.