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Comprehensive analysis of desmosomal protein remodelling identifies desmocollin-2 as potential biomarker for arrhythmogenic cardiomyopathy

29 Aug 2025

Abstract excerpt

AIMS: Arrhythmogenic cardiomyopathy (ACM) is a genetically-determined disease characterized by malignant arrhythmias and sudden cardiac death, particularly in young individuals. Mutations in desmosomal genes are a major cause of ACM, but the role of desmocollin-2 (DSC2) remains understudied. METHODS AND RESULTS: We conducted a multi-cohort study with 52 ACM patients, 29 with dilated cardiomyopathy (DCM), 17 with...

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PMID: 40879390
DOI: 10.1093/europace/euaf199

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