Cardiac and muscle imaging findings in a family with X-linked Emery-Dreifuss muscular dystrophy.

The following is a report on a large family with 5 males affected by the X-linked recessive form of Emery–Dreifuss muscular dystrophy with mutation in the STA gene. A detailed longitudinal cardiological evaluation and muscle imaging studies allowed for the assessment of intrafamilial variability of cardiac and muscle involvement.