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• W2308175728 abstract "Charcot-Marie-Tooth (CMT) disorders are the extremely heterogeneous 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." @default.
• W2308175728 created "2016-06-24" @default.
• W2308175728 creator A5015893870 @default.
• W2308175728 date "2005-01-01" @default.
• W2308175728 modified "2023-09-26" @default.
• W2308175728 title "Molecular genetics studies in Polish Charcot-Marie-Tooth families." @default.
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• W2308175728 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/16012907" @default.
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