Article
Defective assembly of sarcoglycan complex in patients with beta-sarcoglycan gene mutations. Study of aneural and innervated cultured myotubes.
Neuropathology and applied neurobiology - 1 Jun 2002
Fanin M, Angelini C
Abstract excerpt
Mutations in the sarcoglycan (SG) genes cause autosomal recessive muscular dystrophies. The absence of each SG complex component in muscle impairs the proper assembly of the entire SG complex, resulting in sarcolemmal damage. We investigated the consequences of beta-SG gene mutations in cultured muscle from two beta-SG mutated patients, and analysed each individual SG protein expression by cross-sectional...
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