Deficiency of a Dystrophin-Associated Glycoprotein (Adhalin) in a Patient with Muscular Dystrophy and Cardiomyopathy

Abstract

Cardiac muscle is commonly affected in muscular dystrophies.1–4 X-linked Duchenne's muscular dystrophy and Becker's muscular dystrophy are caused by mutations in the gene encoding dystrophin,5,6 a membrane cytoskeletal protein.7 In skeletal and cardiac muscle, dystrophin is associated with a large oligomeric complex of sarcolemmal glycoproteins.8,9 This dystrophin–glycoprotein complex is composed of five glycoproteins (35, 43 doublet, 50, and 156 kd) and two proteins (25 and 59 kd). It spans the sarcolemma to provide linkage between the subsarcolemmal cytoskeleton and laminin, a major component of the extracellular matrix.9,10 In Duchenne's and Becker's muscular dystrophies, the primary deficiency . . .