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- Title
Charcot-Marie-Tooth disease.
- Authors
Szigeti, Kinga; Lupski, James R
- 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.
- Publication
European journal of human genetics : EJHG, 2009, Vol 17, Issue 6, p703
- ISSN
1476-5438
- Publication type
Journal Article
- DOI
10.1038/ejhg.2009.31