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Article

X inactivation in females with X-linked Charcot-Marie-Tooth disease.

Neuromuscular disorders : NMD - 1 Jul 2012

Murphy Sinéad M, Ovens Richard, Polke James, Siskind Carly E, Laurà Matilde, Bull Karen, Ramdharry Gita, Houlden Henry, Murphy Raymond P J, Shy Michael E, Reilly Mary M

Abstract excerpt

X-linked Charcot-Marie-Tooth disease (CMT1X) is the second most common inherited neuropathy, caused by mutations in gap junction beta-1 (GJB1). Males have a uniformly moderately severe phenotype while females have a variable phenotype, suggested to be due to X inactivation. We aimed to assess X inactivation pattern in females with CMT1X and correlate this with phenotype using the CMT examination score to...

Topics

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Adolescent
Charcot-Marie-Tooth Disease
Chromosomes, Human, X
Family Health
Gene Frequency

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetic Diseases, X-Linked

X Chromosome Inactivation

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Open in PubMed Open full text

Identifiers

PMID: 22483671
DOI: 10.1016/j.nmd.2012.02.009
PMCID: PMC3657177

Genes

GJB1

Provenance

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

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