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Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair

Research output: Contribution to journalArticle

M A Simpson, S Mansour, D Ahnood, K Kalidas, M A Patton, W J McKenna, E R Behr, A H Crosby

Original languageEnglish
Pages (from-to)28-34
Number of pages7
JournalCardiology
Volume113
Issue number1
DOIs
PublishedMar 2009

King's Authors

Abstract

The phenotypic triad of arrhythmogenic right ventricular cardiomyopathy (ARVC) associated with palmoplantar keratoderma and woolly hair has been previously associated with homozygous mutations in both plakoglobin and desmoplakin, which are both critical components of the desmosome. We present here a clinical and genetic study of a consanguineous pedigree in which 2 siblings present with ARVC with left ventricular involvement and associated mild palmoplantar keratoderma and woolly hair.

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