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Article

Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain.

Journal of neurology, neurosurgery, and psychiatry - 1 Nov 2007

Laurà Matilde, Milani Micaela, Morbin Michela, Moggio Maurizio, Ripolone Michela, Jann Stefano, Scaioli Vidmer, Taroni Franco, Pareyson Davide

Abstract excerpt

Myelin protein zero (MPZ) is a major component of compact myelin in peripheral nerves where it plays an essential role in myelin formation and adhesion. MPZ gene mutations are usually responsible for demyelinating neuropathies, namely Charcot-Marie-Tooth (CMT) type 1B, Déjèrine-Sottas neuropathy and congenital hypomyelinating neuropathy. Less frequently, axonal CMT (CMT2) associated with MPZ mutations has been...

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Source

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Identifiers

PMID: 17940173
DOI: 10.1136/jnnp.2006.112276
PMCID: PMC2117588

Genes

MPZ

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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Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain.PMID 17940173Read ↗

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