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Charcot-Marie-Tooth disease.

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.

SUBMITTER: Szigeti K

PROVIDER: S-EPMC2947101 | biostudies-literature | 2009 Jun

REPOSITORIES: biostudies-literature

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Charcot-Marie-Tooth disease.

Szigeti Kinga K Lupski James R JR

European journal of human genetics : EJHG 20090311 6

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 e ...[more]

PMID: 19277060

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