Risk assessment and genetic counseling in families with Duchenne muscular dystrophy.

Abstract excerpt

The Duchenne Muscular dystrophy (DMD) is the most frequent muscle disorder in childhood caused by mutations in the Xlinked dystrophin gene (about 65% deletions, about 7% duplications, about 26% point mutations and about 2% unknown mutations). The clinically milder Becker muscular dystrophy (BMD) is allelic to DMD. About 33% of all patients are due to de novo mutations and germ line mosaicism is frequently...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Counseling
• Share to DMD gene