J Clin Neurol.  2022 Mar;18(2):244-246. 10.3988/jcn.2022.18.2.244.

A Novel HNPP Phenotype in Charcot-Marie-Tooth Type 2E With c.1319C>T Missense Mutation in the NEFL Gene

Affiliations
  • 1Department of Neurology, Seoul St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea
  • 2Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea
  • 3Catholic Genetic Laboratory Center, Seoul St. Mary’s Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea

Abstract

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