Article
Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragility.
Scientific reports - 10 Dec 2020
Vahidnezhad Hassan, Youssefian Leila, Faghankhani Masoomeh, Mozafari Nikoo, Saeidian Amir Hossein, Niaziorimi Fatemeh, Abdollahimajd Fahimeh, Sotoudeh Soheila, Rajabi Fateme, Mirsafaei Liaosadat, Sani Zahra Alizadeh, Liu Lu, Guy Alyson, Zeinali Sirous, Kariminejad Ariana, Ho Reginald T, McGrath John A, Uitto Jouni
Abstract excerpt
Arrhythmogenic right ventricular cardiomyopathy (ARVC), with skin manifestations, has been associated with mutations in JUP encoding plakoglobin. Genotype-phenotype correlations regarding the penetrance of cardiac involvement, and age of onset have not been well established. We examined a cohort of 362 families with skin fragility to screen for genetic mutations with next-generation sequencing-based methods. In...
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