In the subsequent decades, genetic and physio-pathological studies allowed the understanding of the genetic heterogeneity of Emery–Dreifuss muscular dystrophy (EDMD) with the identification of an X-linked form in 1994 (EDMD1, caused by mutations in the EMD gene encoding emerin) with a prevalence of 1:100,000 [2], and an autosomal dominant form in 1999 (EDMD2, associated with mutations in the LMNA gene encoding A-type lamins) [3]. This evidence concerns the gene EMD and Emery-Dreifuss muscular dystrophy.