Article
Clinical profile of four families with arrhythmogenic right ventricular cardiomyopathy caused by dominant desmoplakin mutations.
European heart journal - 1 Aug 2005
Bauce Barbara, Basso Cristina, Rampazzo Alessandra, Beffagna Giorgia, Daliento Luciano, Frigo Gianfranco, Malacrida Sandro, Settimo Luca, Danieli GianAntonio, Thiene Gaetano, Nava Andrea
Abstract excerpt
AIMS: To characterize the clinical profile of patients belonging to families affected with autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVC) due to mutations of the gene encoding for the cell-to-cell adhesion protein desmoplakin (DSP). METHODS AND RESULTS: Thirty-eight subjects belonging to four families showing different DSP mutations (three missense and one in the intron-exon splicing...
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