Desmin p.R406W mutation is associated with arrhythmias through structural and electrophysiological remodeling
Michelle Geryk, Thomas Stervinou, Martin Bouaud, Bastien Cimarosti, Jérôme Montnach, Agnès Tessier, Charlène Jouve, Pierre Lindenbaum, Florence Kyndt, Alice Boissard, Cécile Henry, Mélèze Hocini, Sabrina Batonnet‐Pichon, Benjamin Lauzier, Guillaume Lamirault, , Flavien Charpentier
This study investigates the pathogenic effects of the DES p.R406W mutation, showing it causes electrical and structural heart remodeling linked to arrhythmias and sudden cardiac death.
bioRxiv · Aug 11, 2026 · PreprintPathology