Mutations in the area composita protein αT-catenin are associated with arrhythmogenic right ventricular cardiomyopathy

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a major cause of juvenile sudden death and is characterized by fibro-fatty replacement of the right ventricle. Mutations in several genes encoding desmosomal proteins have been identified in ARVC. We speculated that αT-catenin, encoded by CTN...

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Veröffentlicht in:	European heart journal 2013-01, Vol.34 (3), p.201-210
Hauptverfasser:	van Hengel, Jolanda, Calore, Martina, Bauce, Barbara, Dazzo, Emanuela, Mazzotti, Elisa, De Bortoli, Marzia, Lorenzon, Alessandra, Li Mura, Ilena E A, Beffagna, Giorgia, Rigato, Ilaria, Vleeschouwers, Mara, Tyberghein, Koen, Hulpiau, Paco, van Hamme, Evelien, Zaglia, Tania, Corrado, Domenico, Basso, Cristina, Thiene, Gaetano, Daliento, Luciano, Nava, Andrea, van Roy, Frans, Rampazzo, Alessandra
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult alpha Catenin - genetics alpha Catenin - metabolism Arrhythmias, Cardiac - genetics Arrhythmogenic Right Ventricular Dysplasia - genetics Arrhythmogenic Right Ventricular Dysplasia - metabolism Case-Control Studies Death, Sudden, Cardiac - etiology Electrocardiography Female Gene Deletion Heterozygote Humans Male Mutation, Missense - genetics Pedigree
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