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Article

Four novel cases of periaxin-related neuropathy and review of the literature.

Neurology - 16 Nov 2010

Marchesi C, Milani M, Morbin M, Cesani M, Lauria G, Scaioli V, Piccolo G, Fabrizi G M, Cavallaro T, Taroni F, Pareyson D

Abstract excerpt

OBJECTIVE: To report 4 cases of autosomal recessive hereditary neuropathy associated with novel mutations in the periaxin gene (PRX) with a review of the literature. Periaxin protein is required for the maintenance of peripheral nerve myelin. Patients with PRX mutations have early-onset autosomal...

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Source

Identifiers

PMID: 21079185
DOI: 10.1212/WNL.0b013e3181fd6314

Genes

PRX

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21079185-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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