Article
Large Genomic Rearrangements of Desmosomal Genes in Italian Arrhythmogenic Cardiomyopathy Patients.
Circulation. Arrhythmia and electrophysiology - 1 Oct 2017
Pilichou Kalliopi, Lazzarini Elisabetta, Rigato Ilaria, Celeghin Rudy, De Bortoli Marzia, Perazzolo Marra Marina, Cason Marco, Jongbloed Jan, Calore Martina, Rizzo Stefania, Regazzo Daniela, Poloni Giulia, Iliceto Sabino, Daliento Luciano, Delise Pietro, Corrado Domenico, Van Tintelen J Peter, Thiene Gaetano, Rampazzo Alessandra, Basso Cristina, Bauce Barbara, Lorenzon Alessandra, Occhi Gianluca
Abstract excerpt
BACKGROUND: Arrhythmogenic cardiomyopathy (AC) is an inherited heart muscle disease associated with point mutations in genes encoding for cardiac desmosome proteins. Conventional mutation screening is positive in ≈50% of probands. Copy number variations (CNVs) have recently been linked to AC pointing to the need to determine the prevalence of CNVs in desmosomal genes and to evaluate disease penetrance by...
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