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Eur J Hum Genet. 2009 Jun;17(6):703-10. doi: 10.1038/ejhg.2009.31. Epub 2009 Mar 11.

Charcot-Marie-Tooth disease.

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  • 1Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA.

Abstract

Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of genetic disorders presenting with the phenotype of a chronic progressive neuropathy affecting both the motor and sensory nerves. During the last decade over two dozen genes have been identified in which mutations cause CMT. The disease illustrates a multitude of genetic principles, including diverse mutational mechanisms from point mutations to copy number variation (CNV), allelic heterogeneity, age-dependent penetrance and variable expressivity. Population based studies have determined the contributions of the various genes to disease burden enabling evidence-based approaches to genetic testing.

PMID:
19277060
[PubMed - indexed for MEDLINE]
PMCID:
PMC2947101
Free PMC Article

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