Emery-Dreifuss muscular dystrophy (EDMD) was initially linked to mutations in the EMD gene, which encodes the INM protein emerin [7], but can also be caused by mutations in LMNA and NE genes SYNE1, SYNE2 and TMEM43[6]. The gene discussed is EMD; the disease is Emery-Dreifuss muscular dystrophy.