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Article

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

Clinical neurology and neurosurgery - 1 Apr 2011

Reyes-Marin K, Jimenez-Pancho J, Pozo Lidia, Garcia-Villanueva M, de Blas G, Vazquez J M, Jimenez-Escrig A

Abstract excerpt

Although less common than peripheral myelin protein 22 (PMP22) duplication, there are mutations in myelin protein zero (MPZ) responsible for Charcot-Marie-Tooth disease (CMT) with a number of different clinical profiles. We report here a novel MPZ homozygous mutation, with a peculiar pattern characterized by a late-onset demyelinating profile. In addition, the patient presented brain white matter lesions...

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Source

Identifiers

PMID: 21277678
DOI: 10.1016/j.clineuro.2010.10.015

Genes

MPZ
PMP22

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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