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Article

Screening of the early growth response 2 gene in Japanese patients with Charcot-Marie-Tooth disease type 1.

Journal of the neurological sciences - 15 Jun 2003

Numakura Chikahiko, Shirahata Emi, Yamashita Sumimasa, Kanai Masayo, Kijima Kazuki, Matsuki Takasumi, Hayasaka Kiyoshi

Abstract excerpt

Charcot-Marie-Tooth disease type 1 (CMT1) is a heterogeneous disorder. Most CMT1 patients are associated with a duplication of 17p11.2-p12 (CMT1A duplication), but a small number of patients have mutations of peripheral myelin protein 22 (PMP22), myelin protein zero (MPZ), connexin 32 (Cx32) and...

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Source

Identifiers

PMID: 12736090
DOI: 10.1016/s0022-510x(03)00028-5

Genes

EGR2
MPZ
PMP22

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-12736090-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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