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Article

Copy number variations in a population-based study of Charcot-Marie-Tooth disease.

BioMed research international - 1 Jan 2015

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

Abstract excerpt

Copy number variations (CNVs) are important in relation to diversity and evolution but can sometimes cause disease. The most common genetic cause of the inherited peripheral neuropathy Charcot-Marie-Tooth disease is the PMP22 duplication; otherwise, CNVs have been considered rare. We investigated CNVs in a population-based sample of Charcot-Marie-Tooth (CMT) families. The 81 CMT families had previously been...

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Source

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Identifiers

PMID: 25648254
DOI: 10.1155/2015/960404
PMCID: PMC4306395

Genes

PMP22
CNTNAP2
LAMA2
MFN2
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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