Charcot-Marie-Tooth disease - PubMed (original) (raw)

Charcot-Marie-Tooth disease

Kinga Szigeti et al. Eur J Hum Genet. 2009 Jun.

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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Figures

Figure 1

Figure 1

Suggested testing scheme in hereditary sensory and motor polyneuropathy for patients with and without a family history of CMT based on the genotype–phenotype correlations and frequency data in 12 population-based studies.

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