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Article

Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ gene.

Clinical genetics - 1 Jul 2010

Brozková D, Mazanec R, Haberlová J, Sakmaryová I, Seeman P

Abstract excerpt

Mutations in the myelin protein zero (MPZ) gene are one of the frequent causes of Charcot-Marie-Tooth (CMT) hereditary neuropathies. Because the mutation rate of MPZ gene is rather high and some mutations are reported as polymorphisms, the proper clinical, electrophysiological examination and the...

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Source

Identifiers

PMID: 20456450
DOI: 10.1111/j.1399-0004.2010.01423.x

Genes

MPZ

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20456450-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Clinical and in silico evidence for and against pathogenicity of 11 new mutations in the MPZ gene.PMID 20456450Read ↗

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