Article
Homozygous Desmocollin-2 Mutations and Arrhythmogenic Cardiomyopathy.
The American journal of cardiology - 15 Oct 2015
Lorenzon Alessandra, Pilichou Kalliopi, Rigato Ilaria, Vazza Giovanni, De Bortoli Marzia, Calore Martina, Occhi Gianluca, Carturan Elisa, Lazzarini Elisabetta, Cason Marco, Mazzotti Elisa, Poloni Giulia, Mostacciuolo Maria Luisa, Daliento Luciano, Thiene Gaetano, Corrado Domenico, Basso Cristina, Bauce Barbara, Rampazzo Alessandra
Abstract excerpt
Dominant mutations in desmocollin-2 (DSC2) gene cause arrhythmogenic cardiomyopathy (ACM), a progressive heart muscle disease characterized by ventricular tachyarrhythmias, heart failure, and risk of juvenile sudden death. Recessive mutations are rare and are associated with a cardiac or cardiocutaneous phenotype. Here, we evaluated the impact of a homozygous founder DSC2 mutation on clinical expression of ACM....
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