SYNE1 and Emery-Dreifuss muscular dystrophy: Furthermore, heterozygous missense mutations in SYNE1 have been identified in dominant muscular dystrophy and two unrelated probands with Emery-Dreifuss muscular dystrophy (MIM# 612998) where only the exons contributing to the muscle specific isoform of SYNE1 were investigated [11, 12].