Article
Localization of a locus for Charcot-Marie-Tooth neuropathy type Ia (CMT1A) to chromosome 17.
Genomics - 1 Jul 1990
McAlpine P J, Feasby T E, Hahn A F, Komarnicki L, James S, Guy C, Dixon M, Qayyum S, Wright J, Coopland G
Abstract excerpt
Phenotypic data for 71 genetic markers for members of five Caucasian kindreds were tested for linkage with the autosomal dominant mutations causing Charcot-Marie-Tooth (hereditary motor sensory) neuropathy type I, characterized by markedly reduced nerve conduction velocities. Lod score analysis g...
Topics
- Charcot-Marie-Tooth Disease
- Chromosome Mapping
- Chromosomes, Human, Pair 17
- Female
- Genes, Dominant
- Genetic Linkage
- Genetic Markers
- Humans
- Lod Score
- Male
- Muscular Atrophy, Spinal
- Mutation
- Pedigree
- Phenotype
