TMEM43 and Emery-Dreifuss muscular dystrophy 7, autosomal dominant: Particularly, the S358Lmutation causes a fully penetrant ARVC5 with sudden cardiac death (10, 11).Mutations p.E85K and p.I91V in TMEM43 have been reported inpatients with Emery–Dreifuss muscular dystrophy type 7 (EDMD7) (5, 12).Hereditary serrated polyposis syndrome, a high-risk disorder of colorectal cancer,has shown significant segregation with rare TMEM43 variants (13).