In addition to previously reported patients harbouring this particular missense mutation, who all showed an early disease onset and severe cardiac disease [13, 18, 19, 20], [S24, S25], our work in humans and mice delineated a pronounced cardiotoxic effect of R406W/R405W desmin based on a compromised attachment of structurally altered desmin filaments to intercalated discs [17]. The gene discussed is DES; the disease is heart disorder.