Molecular genetics studies in Polish Charcot-Marie-Tooth families

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Folia Neuropathol. 2005;43(2):65-73.

Molecular genetics studies in Polish Charcot-Marie-Tooth families.

Kochanski A.

Neuromuscular Unit, M. Mossakowski Medical Research Centre, Polish

Academy of Sciences, Pawinskiego 5, 02-106 Warsaw, Poland

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.