Article

Desmin p.R406W mutation is associated with arrhythmias through structural and electrophysiological remodeling

2026-08-11

Abstract excerpt

<h4>Background and Aims</h4> Mutations in the desmin ( DES ) gene cause a variety of cardiomyopathies associated with arrhythmias, yet the electrophysiological consequences of these variants remain largely uncharacterized. The aim of this study was to investigate the pathogenic mechanisms of the de novo DES p.R406W variant, which was identified in a 9-year-old patient who suffered from severe ventricular arrhyt...

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Literature Corpus work: da22d808-b6e0-5969-aba2-da860ec84b17
DOI: 10.64898/2026.08.05.742729

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