Raymond T. O’Keefe

RCC1 neuropathy mimics childhood axonal Guillain–Barré syndrome with variable clinical severity and survival

Abstract Aim To assess the phenotype and genotype of 10 new patients with biallelic RCC1 variants who presented with axonal neuropathy, and assess functional consequences in vitro. Method In this retrospective, multicentre, observational study, we identified 10 individuals from s...