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Article

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

Nature genetics - 1 Nov 1995

Bönnemann C G, Modi R, Noguchi S, Mizuno Y, Yoshida M, Gussoni E, McNally E M, Duggan D J, Angelini C, Hoffman E P

Abstract excerpt

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 beta-sarcoglycan (A3b) and the localization of the...

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PMID: 7581449
DOI: 10.1038/ng1195-266

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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