Open AccessA Novel HNPP Phenotype in Charcot-Marie-Tooth Type 2E With c.1319C>T Missense Mutation in the NEFL Gene
Author(s) -
Kyu-Ho Choi,
Jisook Yim,
Myungshin Kim,
Jung Hwan Lee
Publication year - 2022
Publication title -
journal of clinical neurology/the journal of clinical neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.208
H-Index - 45
eISSN - 2005-5013
pISSN - 1738-6586
DOI - 10.3988/jcn.2022.18.2.244
Subject(s) - missense mutation , phenotype , genetics , mutation , gene , clinical phenotype , biology