dystrophin
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Mutations in the dystrophin gene result in both Duchenne and Becker muscular dystrophy (DMD and BMD), as well as X-linked dilated cardiomyopathy.
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