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Article

Charcot-Marie-Tooth caused by a copy number variation in myelin protein zero.

European journal of medical genetics - 1 Jan 2000

Høyer Helle, Braathen Geir J, Eek Anette K, Skjelbred Camilla F, Russell Michael B

Abstract excerpt

INTRODUCTION: Charcot-Marie-Tooth disease (CMT) is the most common inherited disorder of the peripheral nervous system. The majority has a duplication of the peripheral myelin protein 22. CMT is otherwise caused by point mutations or small insertions/deletions in one of the 44 known CMT genes. ME...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21787890
DOI: 10.1016/j.ejmg.2011.06.006

Genes

MPZ

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-21787890-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

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

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