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Article

A new MPZ mutation associated with a mild CMT1 phenotype presenting with recurrent nerve compression.

Muscle & nerve - 1 Aug 2008

Magot Armelle, Latour Philippe, Mussini Jean-Marie, Mourtada Reda, Guiheneuc Pierre, Pereon Yann

Abstract excerpt

P0 is a transmembrane protein of the immunoglobulin superfamily that plays a role in myelin structure and function. Myelin protein zero gene (MPZ) mutations usually cause a demyelinating variant of Charcot-Marie-Tooth disease type 1B (CMT1B), but there is a wide spectrum of phenotypic manifestation of these mutations. We describe three patients from one family and one separate patient who presented with a...

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Source

Identifiers

PMID: 18663734
DOI: 10.1002/mus.21050

Genes

MPZ
PMP22

Provenance

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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