ABSTRACT

Muscular dystrophies are a heterogeneous group of muscle disorders characterized by progressive muscle weakening due to degeneration of muscle fibers and infiltration of connective and adipose tissue. To date, mutations in more than 20 genes have been identified in human muscular dystrophies (1,2). These genes encode structural proteins at the muscle fiber membrane and the contractile apparatus, as well as potential signaling and enzymatic molecules (see Fig. 1, reviewed in Refs. 2 and 3).