Analysis of dystrophin deletion mutations predicts age of cardiomyopathy onset in becker muscular dystrophy.

ABSTRACT:

Background

Becker muscular dystrophy (BMD) and X-linked dilated cardiomyopathy often result from deletion mutations in the dystrophin gene that may lead to expression of an altered dystrophin protein in cardiac muscle. Cardiac involvement is present in approximately 70% of BMD and all X-linked dilated cardiomyopathy cases. To date, the timing of cardiomyopathy development remains unpredictable. We analyzed 78 BMD and X-linked dilated cardiomyopathy patients with common deletion mutations predicted to alter the dystrophin protein and correlated their mutations to cardiomyopathy age of onset. This approach was chosen to connect dystrophin structure with function in the heart.

Methods and results

Detailed cardiac information was collected for BMD and X-linked dilated cardiomyop

SUBMITTER: Kaspar RW 

PROVIDER: S-EPMC2826810 | biostudies-literature | 2009 Dec

REPOSITORIES: biostudies-literature