A homozygous deletion in DSP (DSP6901delG), which results in a premature stop codon and a truncated protein product lacking the C-domain of the tail region was for the first time linked to cardiomyopathy in patients with Carvajal disease, a cardio-cutaneous syndrome characterized by dilated cardiomyopathy (DCM), palmoplantar keratoderma and woolly hair [47]. The gene discussed is DSP; the disease is dilated cardiomyopathy.