Integrative genomic and literature assessment of desmoglein 2-related arrhythmogenic cardiomyopathy with Italian cohort validation

Abstract Background Desmoglein-2 (DSG2) is an essential cardiac desmosomal cadherin, and its alteration underlies a broad spectrum of arrhythmogenic cardiomyopathy (ACM). Yet, the clinical significance of many DSG2 variants remains uncertain. This study aimed to systematically characterize the spect...

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Principais autores:	Serena Pinci, Rudy Celeghin, Marika Martini, Monica De Gaspari, Maria Bueno Marinas, Giulia Tosato, Francesca Dalla Zanna, Marco Cason, Ilaria Rigato, Gaetano Thiene, Stefania Rizzo, Domenico Corrado, Cristina Basso, Barbara Bauce, Kalliopi Pilichou
Formato:	Artigo
Idioma:	Inglês
Publicado:	Nature Portfolio 2026-02-01
Series:	Communications Medicine
Acceso en liña:	https://doi.org/10.1038/s43856-026-01416-w
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