A novel SYNE1 gene mutation in a Chinese family of Emery-Dreifuss muscular dystrophy-like

摘要

BackgroundIn the present study, a novel mutation in exon 46 at codon 2304 (G2304R) of the SYNE1 gene is described in a Chinese family (proband, mother, and sister) with Emery–Dreifuss muscular dystrophy-like, which clinically manifests as muscle weakness, muscle atrophy, joint contracture, and without significant cardiac abnormalities.