Charcot-Marie-Tooth neuropathies and related disorders.
As a group, the Charcot-Marie-Tooth (CMT) neuropathies represent the most common inherited peripheral nerve diseases. Estimates of the prevalence rate are 1 in 2500 but the exact numbers are difficult to ascertain because of the heterogeneity of the syndrome(s). The classification of CMT has undergone change coincident with chromosomal localization and gene identification. Table 1 summarizes the diseases and genetic defects discussed in this review.
Mendell
J R
JR
Department of Neurology, Ohio State University School of Medicine, Columbus 43210, USA.
D002607:Charcot-Marie-Tooth Disease / Q000145:classification / Q000175:diagnosis / Q000235:genetics; D004502:Education, Medical, Continuing; D006801:Humans