Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing
Jimenez-Escrig A, Gobernado I, Garcia-Villanueva M, and Sanchez-Herranz A. (2012) Autosomal recessive emery–dreifuss muscular dystrophy caused by a novel mutation (r225q) in the lamin a/c gene identified by exome sequencing. Muscle Nerve. 45, 605–610