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Article

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

Journal of neurology, neurosurgery, and psychiatry - 1 Feb 2004

Santoro L, Manganelli F, Di Maria E, Bordo D, Cassandrini D, Ajmar F, Mandich P, Bellone E

Abstract excerpt

OBJECTIVE: To report a new mutation in the MPZ gene which encodes myelin protein zero (P0), associated with an axonal form of Charcot-Marie-Tooth disease (CMT). METHODS: Three patients from an Italian family with a mild, late onset axonal peripheral neuropathy are described clinically and electrophysiologically. To detect point mutation in MPZ gene the whole coding sequence was examined. The structure of the...

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Source

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Identifiers

PMID: 14742601
PMCID: PMC1738925

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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