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- W3210198503 abstract "Naxos disease is a recessively inherited pattern of arrhythmogenic cardiomyopathy with palmoplantar keratoderma and woolly hair. The causative mutation identified in plakoglobin protein gene indicated a potential role of the desmosomal protein complex as culprit for cardiomyopathy. In the context of a family, the early evident cutaneous features may serve as a clinical screening tool to spot arrhythmogenic cardiomyopathy in subclinical stage. Myocarditis-like episodes may step up the disease evolution or mark a transition from concealed to symptomatic cardiomyopathy phase. Arrhythmogenic cardiomyopathy in Naxos disease shows increased penetrance and phenotypic expression but its arrhythmic risk is analogous to dominant forms." @default.
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- W3210198503 date "2022-01-01" @default.
- W3210198503 modified "2023-09-23" @default.
- W3210198503 title "Clinical and Molecular Aspects of Naxos Disease" @default.
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- W3210198503 doi "https://doi.org/10.1016/j.hfc.2021.07.010" @default.
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