Clinical and genetic characterization of NEFL-related neuropathy in Taiwan

Chao, HC; Hsiao, CT; Lai, KL; Tsai, YS; Lin, KP; Liao, YC; Lee, YC

Lee, YC (通讯作者),Taipei Vet Gen Hosp, Dept Neurol, 201,Sect 2 Shih-Pai Rd, Taipei 11217, Taiwan.

JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION, 2023; 122 (2): 132

Abstract

Background: Mutations in the neurofilament light polypeptide gene (NEFL) are an uncommon cause of Charcot-Marie-Tooth disease (CMT). The aim of this s......

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