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Article

Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene.

Journal of neurology, neurosurgery, and psychiatry - 1 Jun 1999

Chapon F, Latour P, Diraison P, Schaeffer S, Vandenberghe A

Abstract excerpt

A French family had Charcot-Marie-Tooth disease type 2 (CMT2) which was characterised by late onset of peripheral neuropathy involvement, Argyll Robertson-like pupils, dysphagia, and deafness. Electrophysiological studies and nerve biopsy defined the neuropathy as axonal type. Genetic analysis of myelin protein zero (MPZ) found a mutation in codon 124 resulting in substitution of threonine by methionine. One of...

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Source

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Identifiers

PMID: 10329755
DOI: 10.1136/jnnp.66.6.779
PMCID: PMC1736388

Genes

MPZ

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene.PMID 10329755Read ↗

An axonal form of Charcot-Marie-Tooth disease showing distinctive features in association with mutations in the peripheral myelin protein zero gene (Thr124Met or Asp75Val).Semantic proximity Read ↗

The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype.Semantic proximity Read ↗

A novel myelin protein zero (V136G) homozygous mutation causing late onset demyelinating polyneuropathy with brain white matter lesions.Semantic proximity Read ↗

A novel mutation of myelin protein zero associated with late-onset predominantly axonal Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain.Semantic proximity Read ↗

Complete Loss of Myelin protein zero (MPZ) in a patient with a late onset Charcot-Marie-Tooth (CMT).Semantic proximity Read ↗

A novel mutation of myelin protein zero associated with an axonal form of Charcot-Marie-Tooth disease.Semantic proximity Read ↗

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Charcot–Marie–Tooth disease type 2J with MPZ Thr124Met mutation: clinico-electrophysiological and MRI study of a family.Semantic proximity Read ↗

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