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Article

Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease.

Journal of human genetics - 1 Jan 2004

Kijima Kazuki, Numakura Chikahiko, Shirahata Emi, Sawaishi Yukio, Shimohata Mitsuteru, Igarashi Shuichi, Tanaka Tomohiro, Hayasaka Kiyoshi

Abstract excerpt

Periaxin (PRX) plays a significant role in the myelination of the peripheral nerve. To date, seven non-sense or frameshift PRX mutations have been reported in six pedigrees with Dejerine-Sottas neuropathy or severe Charcot-Marie-Tooth neuropathy (CMT). We detected a PRX mutation in three patients in the screening of 66 Japanese demyelinating CMT patients who were negative for the gene mutation causing dominant or...

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Identifiers

PMID: 15197604
DOI: 10.1007/s10038-004-0162-3

Genes

PRX

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease.PMID 15197604Read ↗

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