Naxos disease

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An autosomal recessive disorder (palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair) first reported in families on the Greek island of Naxos and due to mutation in plakoglobin. Related disorders are associated with mutations in desmoplakin but there appears to be great heterogeneity and other genes are probably involved.

Subjects: Medicine and Health.

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