Novel variants in ryanodine receptor type 3 predispose to acute rhabdomyolysis due to impaired autophagy
Hortense de Calbiac, Laure Caccavelli, Solène Renault, Marine Madrange, Quentin Raas, Marjolène Straube, Guy Brochier, Emmanuelle Lacène, Anaïs Chanut, A. Madelaine, Clémence Labasse, Lylia Mekzine, Sebastián Montealegre, Nicolas Goudin, Aleksandra Nadaj‐Pakleza, , Pascale de Lonlay
This study identifies rare RYR3 variants causing recurrent rhabdomyolysis by impairing autophagy and mitochondrial function, highlighting RyR3's role in muscle stress adaptation.
medRxiv · Mar 3, 2026 · PreprintGenetic & Genomic Medicine