Abstract
2/2005
vol. 43
Review article
Molecular genetics studies in Polish Charcot-Marie-Tooth families
Folia Neuropathol 2005; 43 (2): 65-73
Online publish date: 2005/06/22
Charcot-Marie-Tooth (CMT) disorders are the extremely heterogenous group of diseases of the peripheral nervous system in humans with a prevalence of 1: 2500. Up to date mutations in 30 genes have been reported in various CMT forms. In numerous CMT types only locus is known and some CMT forms were shown not to be linked with any known locus. Genetic studies in CMT disorders cover a wide spectrum of problems ranging from identification of novel mutations through studies of pathogenic nature of mutations to genotype-phenotype correlations. The aim of this study was to present the main directions of genetic analysis performed in Polish families with CMT disease.
Keywords
Charcot-Marie-Tooth disease, gene mapping, phenotype-genotype correlations, mutation screening, pathogenic effect of mutations, molecular diagnostics
Integrated with
