Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
, 17 (6), 703-10

Charcot-Marie-Tooth Disease


Charcot-Marie-Tooth Disease

Kinga Szigeti et al. Eur J Hum Genet.


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.


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.

Similar articles

See all similar articles

Cited by 42 PubMed Central articles

See all "Cited by" articles