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Article

Late onset axonal Charcot-Marie-Tooth phenotype caused by a novel myelin protein zero mutation.

Journal of neurology, neurosurgery, and psychiatry - 1 Apr 2006

Bienfait H M E, Faber C G, Baas F, Gabreëls-Festen A A W M, Koelman J H T M, Hoogendijk J E, Verschuuren J J, Wokke J H J, de Visser M

Abstract excerpt

A late onset axonal Charcot-Marie-Tooth phenotype is described, resulting from a novel mutation in the myelin protein zero (MPZ) gene. Comparative computer modelling of the three dimensional structure of the MPZ protein predicts that this mutation does not cause a significant structural change. The primary axonal disease process in these patients points to a function of MPZ in maintenance of the myelinated axons,...

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Source

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Identifiers

PMID: 16543539
DOI: 10.1136/jnnp.2005.073437
PMCID: PMC2077493

Genes

MPZ

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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