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Article

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

Journal of neurology - 1 Aug 2012

Marttila Maria, Rautenstrauss Bernd, Huehne Kathrin, Laitinen Virpi, Majamaa Kari, Kärppä Mikko

Abstract excerpt

We report a case of late-onset predominantly axonal Charcot-Marie-Tooth disease resulting from a novel mutation in the MPZ gene encoding myelin protein zero (P0). Neurological examination, electrophysiological examination and genetic testing were performed on three members of a Finnish family (fa...

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Identifiers

PMID: 22222859
DOI: 10.1007/s00415-011-6382-5

Genes

MPZ

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22222859-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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