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Article

Clinical features and molecular modelling of novel MPZ mutations in demyelinating and axonal neuropathies.

European journal of human genetics : EJHG - 1 Sept 2009

Mandich Paola, Fossa Paola, Capponi Simona, Geroldi Alessandro, Acquaviva Massimo, Gulli Rossella, Ciotti Paola, Manganelli Fiore, Grandis Marina, Bellone Emilia

Abstract excerpt

Mutations in the myelin protein zero (MPZ) gene have been associated with different Charcot-Marie-Tooth disease (CMT) phenotypes, including classical demyelinating CMT1B and the axonal form of the disease (CMT2). The MPZ role in the pathogenesis of both demyelinating and axonal inherited neuropathies was evaluated in the Italian population by screening a cohort of 214 patients with CMT1 or CMT2. A MPZ mutation...

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Source

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Identifiers

PMID: 19293842
DOI: 10.1038/ejhg.2009.37
PMCID: PMC2986589

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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