A targeted next-generation gene panel reveals a novel heterozygous nonsense variant in the TP63 gene in arrhythmogenic cardiomyopathy patients

Arrhythmogenic cardiomyopathy (ACM) is associated with arrhythmias and risk of sudden death. Mutations in genes encoding proteins of cardiac intercalated discs account for ∼60% of ACM cases, but the remaining 40% is still genetically elusive.

Source: Heart Rhythm - November 16, 2018 Category: Cardiology Authors: Giulia Poloni, Martina Calore, Ilaria Rigato, Elena Marras, Giovanni Minervini, Elisa Mazzotti, Alessandra Lorenzon, Ilena Egle Astrid Li Mura, Andrea Telatin, Ivano Zara, Barbara Simionati, Martina Perazzolo Marra, Jessica Ponti, Gianluca Occhi, Libero V Source Type: research