Title : Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12.

Pub. Date : 1995 Nov

PMID : 7581448






1 Functional Relationships(s)
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1 A Thr-to-Arg missense mutation was identified within the beta-sarcoglycan gene that leads to a dramatically reduced expression of beta-sarcoglycan in the sarcolemma and a concomitant loss of adhalin and 35 DAG, which may represent a disruption of a functional subcomplex within the dystrophin-glycoprotein complex. Arginine sarcoglycan alpha Homo sapiens