Deep characterization of females with heterozygous Duchenne muscular dystrophy mutations.

Objective: Duchenne muscular dystrophy (DMD) is an X-linked muscular dystrophy due to null mutations in the DMD gene that predominantly affects males, while heterozygous females are usually asymptomatic carriers. In approximately 10-20% of cases, they may present with muscle weakness and/or cardiomyopathy. We aimed to describe clinical and molecular characteristics of DMD heterozygous females.