Article
De novo mutation of Charcot-Marie-Tooth disease type 1A.
Pediatric neurology - 1 Jul 1997
Tachi N, Kozuka N, Ohya K, Chiba S
Abstract excerpt
Charcot-Marie-Tooth disease type 1A (CMT 1A) is an autosomal dominant demyelinating polyneuropathy associated with a 1.5-Mb duplication of the p11.2-p12 region of chromosome 17, including the peripheral myelin protein-22 (PMP-22) gene (CMT 1A duplication). We report a male patient with a de novo...
Topics
- Blotting, Southern
- Charcot-Marie-Tooth Disease
- Chromosome Aberrations
- Chromosome Disorders
- Chromosomes, Human, Pair 17
- DNA Mutational Analysis
- Genes, Dominant
- Genetic Carrier Screening
- Humans
- Infant
- Male
- Mutation
- Myelin Proteins
- Pedigree