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Article

Expansion of the phenotypic spectrum of X-linked Charcot-Marie-Tooth (CMT) disease.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 Mar 2020

Yang Qijie, Xiao Xuewen, Yuan Zhenhua, Jiao Bin, Liao Xinxin, Du Juan

Abstract excerpt

Charcot-Marie-Tooth (CMT) disease is the most common hereditary peripheral neuropathy. X-linked Charcot-Marie-Tooth disease in the GJB1 gene is known as CMTX1. We report a 14 years-old young man with walked unstably, bilateral strephenopodia, severe alopecia and paroxysmal bilateral upper limbs tremor without obvious muscle atrophy. Diagnostic whole-exome sequencing revealed a hemizygote missense mutation...

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Identifiers

PMID: 31987637
DOI: 10.1016/j.jocn.2020.01.029

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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