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Article

Four novel mutations of the myelin protein zero gene presenting as a mild and late-onset polyneuropathy.

Journal of neurology - 1 Nov 2010

Kleffner Ilka, Schirmacher Anja, Gess Burkhard, Boentert Matthias, Young Peter

Abstract excerpt

Inherited neuropathies caused by mutations of the major structural protein of peripheral myelin, myelin protein zero (MPZ), contribute to 5% of all cases of Charcot-Marie-Tooth disease (CMT). They can be divided into an early-onset neuropathy with symptoms prior to the stage of walking, and a late-onset neuropathy with symptoms at the age of 40 and older. In this study, five patients with four novel MPZ mutations...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Restriction Fragment Length

Source

Identifiers

PMID: 20556410
DOI: 10.1007/s00415-010-5624-2

Genes

MPZ

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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