In musculoskeletal and cardiac diseases, SYNE1 and SYNE2 mutations had been associated with Autosomal-Dominant Emery-Dreifuss Muscular Dystrophy (AD-EDMD) and EDMD-like phenotypes (Zhang et al., 2007a; Koch and Holaska, 2014; Fanin et al., 2015). The gene discussed is SYNE1; the disease is Emery-Dreifuss muscular dystrophy.