The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.

doi:10.1038/gim.2015.124

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Article

The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2016

Pehlivan Davut, Beck Christine R, Okamoto Yuji, Harel Tamar, Akdemir Zeynep H C, Jhangiani Shalini N, Withers Marjorie A, Goksungur Meryem Tuba, Carvalho Claudia M B, Czesnik Dirk, Gonzaga-Jauregui Claudia, Wiszniewski Wojciech, Muzny Donna M, Gibbs Richard A, Rautenstrauss Bernd, Sereda Michael W, Lupski James R

Abstract excerpt

PURPOSE: Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of genetic disorders of the peripheral nervous system. Copy-number variants (CNVs) contribute significantly to CMT, as duplication of PMP22 underlies the majority of CMT1 cases. We hypothesized that CNVs and/or single-nucleotide variants (SNVs) might exist in patients with CMT with an unknown molecular genetic etiology. METHODS: Two hundred...

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Identifiers

PMID: 26378787
DOI: 10.1038/gim.2015.124
PMCID: PMC5322766

Genes

PMP22
MFN2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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