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Article

Random X chromosome inactivation in female Charcot-Marie-Tooth disease type X1: insights from sural nerve biopsy analysis.

BMC neurology - 4 Aug 2025

Bekircan-Kurt Can Ebru, Aksu-Menges Evrim, Kumtepe Eray Taha, Durmaz Ceren Damla, Terzi Yunus Kasim, Ergul-Ulger Zeynep, Temucin Çagri Mesut, Erdem-Ozdamar Sevim, Tan Ersin, Balci-Hayta Burcu

Abstract excerpt

BACKGROUND: X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) is a hereditary neuropathy caused by mutations in the GJB1 gene encoding Connexin 32 (Cx32). Despite its X-linked dominant inheritance, it has been suggested that the variable phenotypic expression of the disease in females may be due to skewed X chromosome inactivation (XCI) in Schwann cells. This pilot study aimed to examine the XCI patterns in...

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Biopsy
Charcot-Marie-Tooth Disease
Connexins
Gap Junction beta-1 Protein
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

X Chromosome Inactivation

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PMID: 40759929
DOI: 10.1186/s12883-025-04297-z
PMCID: PMC12323128

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GJB1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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