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Article

Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.

Human mutation - 1 Jan 2003

Huehne Kathrin, Benes Vladimir, Thiel Christian, Kraus Cornelia, Kress Wolfram, Hoeltzenbein Maria, Ploner Christoph J, Kotzian Johannes, Reis André, Rott Hans Dieter, Rautenstrauss Bernd W

Abstract excerpt

Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous disorder of the peripheral nervous system. CMT type 1 is most frequently caused by a 1.4 Mb tandem duplication in chromosome 17p11.2 comprising the peripheral myelin protein 22 (PMP22) gene. Furthermore sequence variations of PMP22, myelin protein zero (MPZ) and the gap junction protein b 1 gene (GJB1 or Connexin 32) may cause a...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12497641
DOI: 10.1002/humu.9101

Genes

PMP22
GJB1
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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