Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy

Many unrelated patients with the disorder for mutation in human desmosomal cadherin desmocollin-2 (DSC2) are investigated. The results have identified DSC2 mutations as a cause of arrhythmogenic right ventricular cardiomyopathy (ARVC) in humans and have shown that physiologic levels of DSC2 are crucial for normal cardiac desmosome formation, early cardiac morphogenesis and cardiac function.