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Article

Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease.

Journal of human genetics - 1 Jan 2006

Otagiri Tesshu, Sugai Kenji, Kijima Kazuki, Arai Hiroko, Sawaishi Yukio, Shimohata Mitsuteru, Hayasaka Kiyoshi

Abstract excerpt

Periaxin (PRX) plays an important role in the myelination of the peripheral nerve and consequently in the pathogenesis of Charcot-Marie-Tooth disease (CMT). To date, nine nonsense or frameshift PRX mutations have been reported in eight families with CMT. The patients with PRX mutations appeared t...

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Source

Identifiers

PMID: 16770524
DOI: 10.1007/s10038-006-0408-3

Genes

PRX

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16770524-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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