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Article

Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan.

Journal of human genetics - 1 May 2011

Abe Akiko, Numakura Chikahiko, Kijima Kazuki, Hayashi Makiko, Hashimoto Taeko, Hayasaka Kiyoshi

Abstract excerpt

To study the genetic background of Japanese Charcot-Marie-Tooth disease (CMT) patients, we analyzed qualitative and quantitative changes in the disease-causing genes mainly by denaturing high performance liquid chromatography and multiplex ligation-dependent probe analysis in 227 patients with demyelinating CMT and 127 patients with axonal CMT. In demyelinating CMT, we identified 53 patients with PMP22...

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Source

Identifiers

PMID: 21326314
DOI: 10.1038/jhg.2011.20

Genes

PMP22
MPZ
GJB1
MFN2
NEFL
PRX
EGR2
GDAP1

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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