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Article

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

Journal of the Formosan Medical Association = Taiwan yi zhi - 1 Feb 2023

Chao Hua-Chuan, Hsiao Cheng-Tsung, Lai Kuan-Lin, Tsai Yu-Shuen, Lin Kon-Ping, Liao Yi-Chu, Lee Yi-Chung

Abstract excerpt

BACKGROUND: 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. METHODS: Mutational analysis of the coding regions of NEFL was performed by Sanger sequencing or targeted resequencing. Twenty-one patients...

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PMID: 36031490
DOI: 10.1016/j.jfma.2022.08.008

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