Fig. 4From: Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case reporta The genetic features reported in EDMD patients. The R453W mutations are located in the tail region, the Ig-like fold of the Lamin A/C proteins. b Sanger sequencing confirmation of the son and the father R453W (NM_170707: c.C1357T: NP_733821: p.Arg453Trp) mutationBack to article page