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Article

A case with CMTX1 disease showing transient ischemic-attack-like episodes.

Neurologia i neurochirurgia polska - 1 Mar 2018

Aktan Zehra, Akcakaya Nihan Hande, Tekturk Pinar, Deniz Engin, Koyuncu Bahar, Yapici Zuhal

Abstract excerpt

Charcot-Marie-Tooth (CMT) disease is a hereditary neurologic disease which affects the sensorial and motor fibers of the peripheral nerves. CMTX1 is an X-linked dominantly inherited subtype of CMT and is caused by mutations in gap junction beta 1 gene (GJB1). A small proportion of GJB1 mutations are associated with recurrent central nervous system findings. We describe a 15-year-old male patient with CMTX1 who...

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Source

Identifiers

PMID: 29153916
DOI: 10.1016/j.pjnns.2017.10.016

Genes

GJB1

Provenance

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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