[Clinical and genetic analysis of a Chinese pedigree affected with Charcot-Marie-Tooth disease presenting as childhood-onset encephalopathy].

doi:10.3760/cma.j.cn511374-20250725-00456

Article

[Clinical and genetic analysis of a Chinese pedigree affected with Charcot-Marie-Tooth disease presenting as childhood-onset encephalopathy].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jun 2026

Zheng Haitong, Huang Binglong, Chen Yinhui, Chen Siqi, Wang You, Lin Yongwen, Li Chengyan

Abstract excerpt

OBJECTIVE: To explore the clinical phenotypes and genetic characteristics of a Chinese pedigree affected with X-linked Charcot-Marie-Tooth disease (CMTX) with childhood-onset episodic encephalopathy as the initial manifestation. METHODS: Clinical data and auxiliary examination results of a pedigree with "limb weakness, dysarthria and dysphonia" presented at the Affiliated Hospital of Guangdong Medical University...

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[Clinical and genetic analysis of a Chinese pedigree affected with Charcot-Marie-Tooth disease presenting as childhood-onset encephalopathy].

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