The disease phenotypes are quite different as one patient with mutation NM_170707.4: c.1366A > G, p.(Asn456Asp) has early onset congenital muscular dystrophy (CMD, OMIM #613205), while the other one NM_170707.4: c.1494G > T, p.(Trp498Cys) was previously reported to have late onset LGMD1B [14], which was reclassified as Emery-Dreifuss muscular dystrophy 2 autosomal dominant (EDMD2; OMIM #181350). The gene discussed is LMNA; the disease is Emery-Dreifuss muscular dystrophy 2, autosomal dominant.