Bi-allelic mutations in KCTD11 cause a new form of autosomal recessive intermediate Charcot-Marie-Tooth disease
Jihane Gadacha, Zahraa Haidar, Nathalie Roëckel, Amandine Pauset, Christel Castro, Coralie Provost, Zeinab Hamzé, Camille Humbert, Karine Bertaux, Nicolas Lenfant, Marion Masingue, Alix de Becdelièvre, Marina Konyukh, Nathalie Bonello‐Palot, Anne‐Sophie Lia, , Valérie Delague
This paper identifies bi-allelic mutations in KCTD11 as a cause of autosomal recessive intermediate Charcot-Marie-Tooth disease and elucidates its role in myelin homeostasis through molecular mechanisms.
bioRxiv · Jun 30, 2025 · PreprintGenetics