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

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
We present 10 patients who presented with acute onset axonal neuropathy following infection, mimicking childhood axonal Guillain–Barré syndrome. We review phenotypes, undertake survival analysis, and assess function of novel RCC1 variants in vitro. Abstract Aim To assess the phenotype and genotype of 10 new patients with biallelic RCC1 variants who ...
Han Zhang   +28 more
wiley   +1 more source
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