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Article

Periaxin mutations cause recessive Dejerine-Sottas neuropathy.

American journal of human genetics - 1 Feb 2001

Boerkoel C F, Takashima H, Stankiewicz P, Garcia C A, Leber S M, Rhee-Morris L, Lupski J R

Abstract excerpt

The periaxin gene (PRX) encodes two PDZ-domain proteins, L- and S-periaxin, that are required for maintenance of peripheral nerve myelin. Prx(-/-) mice develop a severe demyelinating peripheral neuropathy, despite apparently normal initial formation of myelin sheaths. We hypothesized that mutations in PRX could cause human peripheral myelinopathies. In accordance with this, we identified three unrelated...

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Identifiers

PMID: 11133365
DOI: 10.1086/318208
PMCID: PMC1235266

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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