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Article

Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene.

Neurology - 25 Nov 2003

Auer-Grumbach M, Strasser-Fuchs S, Robl T, Windpassinger C, Wagner K

Abstract excerpt

MPZ gene mutations cause demyelinating and axonal Charcot-Marie-Tooth (CMT) disease. Two novel MPZ mutations are reported in very late onset and progressive CMT syndrome. The N60H caused axonal CMT in a large family, whereas the I62M occurred in a single patient presenting with a primary axonal neuropathy. Previously, chronic polyradiculoneuritis was assumed in two patients. Molecular genetic testing and...

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Source

Identifiers

PMID: 14638973
DOI: 10.1212/01.wnl.0000094197.46109.75

Genes

MPZ

Variants

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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