A Missense Mutation in the Desmin Rod Domain Is Associated with Autosomal Dominant Distal Myopathy, and Exerts a Dominant Negative Effect on Filament Formation

Abstract excerpt

In some myopathies of distal onset, the intermediate filament desmin is abnormally accumulated in skeletal and cardiac muscle. We report the first point mutation in desmin cosegregating with an autosomal dominant form of desmin-related myopathy. The L345P desmin missense mutation occurs in a large, six generation Ashkenazi Jewish family. The mutation is located in an evolutionarily highly conserved position of...

Topics

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

• Share to Cellular Mechanics and Interactions
• Share to Eosinophilic Disorders and Syndromes
• Share to Skin and Cellular Biology Research