X-linked form of Emery-Dreifuss muscular dystrophy

Emery-Dreifuss muscular dystrophy (EDMD) is an inherited muscular disorder clinically characterized by slowly progressive weakness affecting humero-peroneal muscles, early joint contractures and cardiomyopathy with conduction defects. Autosomal dominant and recessive forms are caused by mutations in lamin A/C gene. Lamin A/C is a major component of nuclear lamina, and its gene mutations cause several human disorders including muscular dystrophy, cardiomyopathy, lipodystrophy, neuropathy, and progeria syndrome. X-linked recessive form of EDMD is caused by mutation in EMD (or STA) gene encoding an integral protein of the inner nuclear membrane. Emerin expresses ubiquitously, but its deficiency affects only limited tissues of skeletal and cardiac muscles and joints. In this paper, I will focus on clinical and pathological aspects of X-EDMD and possible functions of emerin.