Function

 The dystrophin complex has two functions: a structural role in maintaining sarcolemmal integrity during contraction and a scaffolding function that recruits signaling proteins such as neuronal nitric oxide synthase to the membrane.

Gene

 this large gene consists of 79 exons and 8 promoters spread over 2.2 million base pairs of genomic DNA.

Features

 dystrophin-glycoprotein complex

Pathology

 mutations in Duchenne muscular dystrophy (DMD)
 mutations in Becker muscular dystrophy (BMD) (deletions of one or more exons account for 55%-65% of cases of DMD and BMD)

 mutations in X-linked dilated cardiomyopathy