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Article

Clinical characterization and genetic analysis of Korean patients with X-linked Charcot-Marie-Tooth disease type 1.

Journal of the peripheral nervous system : JPNS - 1 Sept 2017

Hong Young B, Park Jin-Mo, Yu Jin S, Yoo Da H, Nam Da E, Park Hyung J, Lee Ji-Su, Hwang Sun H, Chung Ki W, Choi Byung-Ok

Abstract excerpt

Mutations in the gap junction protein beta 1 gene (GJB1) cause X-linked Charcot-Marie-Tooth disease type 1 (CMTX1). CMTX1 is representative of the intermediate type of CMT, having both demyelinating and axonal neuropathic features. We analyzed the clinical and genetic characterization of 128 patients with CMTX1 from 63 unrelated families. Genetic analysis revealed a total of 43 mutations including 6 novel...

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Identifiers

PMID: 28448691
DOI: 10.1111/jns.12217

Genes

GJB1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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