Inherited desmosomal cardiocutaneous syndromes (DCCS) are characterized by the quartet woolly hair (WH), palmoplantar keratoderma (PPK), skin fragility and cardiac abnormalities, which are caused by mutations in genes coding for desmosomal proteins. In this report, we describe a previoulsy unrecognized autosomal recessive syndrome in a family with arrhythmogenic right ventricular Cardiomyopathy associated with Alopecia and Palmoplantar Keratoderma (CAPK). Genetic investigation of the family led us to find a homozygous disease-causing mutation, p.R265H, in JUP which encodes plakoglobin, a well described member of desmosome complex. This study expands the clinical spectrum ...
Cardiomyopathy with Alopecia and Palmoplantar Keratoderma (CAPK) is caused by a JUP mutation is a post from: Skincare
Cardiomyopathy with Alopecia and Palmoplantar Keratoderma (CAPK) is caused by a JUP mutation via BuzzBlazer.com
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