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Article

Copy number variations are a rare cause of non-CMT1A Charcot-Marie-Tooth disease.

Journal of neurology - 1 May 2010

Huang Jia, Wu Xingyao, Montenegro Gladys, Price Justin, Wang Gaofeng, Vance Jeffery M, Shy Michael E, Züchner Stephan

Abstract excerpt

Hereditary peripheral neuropathies present a group of clinically and genetically heterogeneous entities. All known forms, including the various forms of Charcot-Marie-Tooth disease (CMT) are characterized as Mendelian traits and over 35 genes have been identified thus far. The mutational mechanism of the most common CMT type, CMT1A, is a 1.5 Mb chromosomal duplication at 17p12 that contains the gene PMP22. Only...

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Source

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Identifiers

PMID: 19949810
DOI: 10.1007/s00415-009-5401-2
PMCID: PMC2865568

Genes

PMP22
ARHGEF10
MTMR2

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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