Article

Charcot-Marie-Tooth disease

Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA.
European journal of human genetics: EJHG (Impact Factor: 4.23). 04/2009; 17(6):703-10. DOI: 10.1038/ejhg.2009.31
Source: PubMed

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.

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