Article
Multiple mutations in desmosomal proteins encoding genes in arrhythmogenic right ventricular cardiomyopathy/dysplasia.
Heart rhythm - 1 Jan 2010
Bauce Barbara, Nava Andrea, Beffagna Giorgia, Basso Cristina, Lorenzon Alessandra, Smaniotto Gessica, De Bortoli Marzia, Rigato Ilaria, Mazzotti Elisa, Steriotis Alexandros, Marra Martina Perazzolo, Towbin Jeffry A, Thiene Gaetano, Danieli Gian Antonio, Rampazzo Alessandra
Abstract excerpt
BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a progressive cardiomyopathy showing a wide clinical spectrum in terms of clinical expressions and prognoses. OBJECTIVE: This study sought to estimate the occurrence of compound and double heterozygotes for mutations in desmosomal proteins encoding genes in a cohort of ARVC/D Italian index cases, and to assess the clinical phenotype...
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