Clinical and Molecular Data Define a Diagnosis of Arrhythmogenic Cardiomyopathy in a Carrier of a Brugada-Syndrome-Associated <i>PKP2</i> Mutation

Clinical and Molecular Data Define a Diagnosis of Arrhythmogenic Cardiomyopathy in a Carrier of a Brugada-Syndrome-Associated <i>PKP2</i> Mutation

Plakophilin-2 (<i>PKP2</i>) is the most frequently mutated desmosomal gene in arrhythmogenic cardiomyopathy (ACM), a disease characterized by structural and electrical alterations predominantly affecting the right ventricular myocardium. Notably, ACM cases without overt structural altera...

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Bibliographic Details
Main Authors: Simone Persampieri, Chiara Assunta Pilato, Elena Sommariva, Angela Serena Maione, Ilaria Stadiotti, Antonio Ranalletta, Margherita Torchio, Antonio Dello Russo, Cristina Basso, Giulio Pompilio, Claudio Tondo, Michela Casella
Format: Article
Language:English
Published: MDPI AG 2020-05-01
Series:Genes
Subjects:
Brugada syndrome
arrhythmogenic cardiomyopathy
<i>PKP2</i>
endomyocardial biopsy
cardiac mesenchymal stromal cells
mutation
Online Access:https://www.mdpi.com/2073-4425/11/5/571

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https://www.mdpi.com/2073-4425/11/5/571

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