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Figure 6 Domain structure of desmoplakin and the known mutation. The S229R mutation causes arrhythmogenic right ventricular dysplasia (17); the Q331X, Q664X, and C809X are nonsense desmoplakin mutations leading to functionally null alleles and cause striate palmoplantar keratoderma in heterozygotes (28–30). The G2375R and the 7901delG cause cardiomyopathy with skin and hair abnormalities.
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