Causes of clinical variability in Duchenne and Becker muscular dystrophies and implications for exon skipping therapies.

Abstract excerpt

Becker muscular dystrophy is caused by mutations in the DMD gene that permit significant residual dystrophin protein expression in patient muscle. This is in contrast to DMD gene mutations in Duchenne muscular dystrophy where little or no dystrophin is produced (typically < 3% normal levels). Clinically, Becker muscular dystrophy is extremely variable, from slightly milder than DMD, to asymptomatic hyperCKemia at...

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