The genetic basis for the disease was first revealed by the study of autosomal recessive forms of the cardiocutaneous form of AC and demonstrated loss-of-function mutations in desmoplakin (DSP) (Carvajal syndrome) and plakoglobin (JUP) (Naxos disease) (McKoy et al. 2000; Norgett et al. 2000). Here, DSP is linked to Naxos disease.