Clinical aspects, molecular pathomechanisms and management of myotonic dystrophies.

Abstract excerpt

Myotonic dystrophy (DM) is the most common adult muscular dystrophy, characterized by autosomal dominant progressive myopathy, myotonia and multiorgan involvement. To date two distinct forms caused by similar mutations have been identified. Myotonic dystrophy type 1 (DM1, Steinert's disease) was described more than 100 years ago and is caused by a (CTG)n expansion in DMPK, while myotonic dystrophy type 2 (DM2)...

Topics

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

• Share to Biopsy
• Share to DMPK gene
• Share to Mutation