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Article

[Two novel mutations of GJB1 gene associated with typical X-linked Charcot-Marie-Tooth disease].

Zhonghua yi xue za zhi - 22 Dec 2009

Qiao Xiao-hui, Li Yue-xing, Chang Xing-zhi, Luan Xing-hua, Chen Bin, Bu Ding-fang, Yuan Yun

Abstract excerpt

OBJECTIVE: To analyze the relationship between phenotype and genotype and the role of immune cells in the pathogenesis of X-linked Charcot-Marie-Tooth disease (CMT1X). METHODS: The probands of the two families with X-linked dominant inherited peripheral neuropathy were evaluated clinically, electrophysiologically, pathologically and genetically. The available family members were genetic analyzed and the novel...

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Identifiers

PMID: 20193560

Genes

GJB1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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