Dominant mutations in ITPR3 cause Charcot-Marie-Tooth disease.
Julius RönkköSvetlana MolchanovaAnya Revah-PolitiElaine M PereiraMari AuranenJussi ToppilaJouni KvistAnastasia LudwigJulika NeumannGeert BultynckStéphanie Humblet-BaronAdrian ListonAnders PaetauClaudio RiveraMatthew B HarmsHenna TyynismaaEmil YlikallioPublished in: Annals of clinical and translational neurology (2020)
Together with two previously identified variants, our report adds further evidence that ITPR3 is a disease-causing gene for CMT and indicates altered Ca2+ homeostasis in disease pathogenesis.