Caveolin-3 Mutations in Rippling Muscle Disease

Abstract

Two unrelated patients with novel homozygous missense mutations (L86P and A92T) in caveolin-3 gene (CAV3), presenting with a severe form of rippling muscle disease (RMD), are reported from the University of Bonn, and other centers in Germany.

Keywords

• caveolin-3
• rippling muscle disease
• skeletal muscles