Muscular dystrophies: Molecular diagnosis

Abstract

Muscular dystrophies are generally genetic changes resulting in degeneration (and regeneration) of muscle. Mutations of 29 different genes can cause specific types of muscular dystrophy. The most common form of muscular dystrophy is Duchenne muscular dystrophy, caused by mutations in the dystrophin gene on the X-chromosome, resulting in an absence of the protein dystrophin. Mutations in the same gene cause the less common and less severe Becker muscular dystrophy, characterized by a partial deficiency of the dystrophin protein. © 2006 Humana Press Inc.