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Florence Kyndt

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Open access Aug 2026

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

Background and Aims 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...

M. Geryk, T. Stervinou, Martin Bouaud et al. · 0 citations

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