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Papers of the Week

2022 Aug 25

J Formos Med Assoc

Clinical and genetic characterization of NEFL-related neuropathy in Taiwan.


Chao H-C, Hsiao C-T, Lai K-L, Tsai Y-S, Lin K-P, Liao Y-C, Lee Y-C
J Formos Med Assoc. 2022 Aug 25.
PMID: 36031490.


Mutations in the neurofilament light polypeptide gene (NEFL) are an uncommon cause of Charcot-Marie-Tooth disease (CMT). The aim of this study is to elucidate the clinical characteristics and genetic spectrum of NEFL-related neuropathy in a Taiwanese CMT cohort.