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Article

Genotype-phenotype characteristics and baseline natural history of Chinese myelin protein zero gene related neuropathy patients.

European journal of neurology - 1 Apr 2023

Lei Liu, Xiaobo Li, Zhiqiang Lin, Yongzhi Xie, Shunxiang Huang, Huadong Zhao, Beisha Tang, Ruxu Zhang

Abstract excerpt

BACKGROUND AND PURPOSE: The aim was to characterize the phenotypic and genotypic features of myelin protein zero (MPZ) related neuropathy and provide baseline data for longitudinal natural history studies or drug clinical trials. METHOD: Clinical, neurophysiological and genetic data of 37 neuropathy patients with MPZ mutations were retrospectively collected. RESULTS: Nineteen different MPZ mutations in 23...

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PMID: 36692866
DOI: 10.1111/ene.15700

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