Article
Clinical and electrophysiological phenotype of a homozygously duplicated Charcot-Marie-Tooth (type 1A) disease.
European neurology - 1 Jan 1997
Sturtz F G, Latour P, Mocquard Y, Cruz S, Fenoll B, LeFur J M, Mabin D, Chazot G, Vandenberghe A
Abstract excerpt
Type 1A of Charcot-Marie-Tooth disease (CMT1A) is associated with a microduplication of chromosome 17 (region 17p11.2) which contains PMP22, an important gene for peripheral nerve myelination. Patients carrying two duplications are expected to have a more severe phenotype, close to the Dejerine-S...
Topics
- Adult
- Age of Onset
- Charcot-Marie-Tooth Disease
- Child
- Chromosomes, Human, Pair 17
- DNA
- Electrophysiology
- Female
- Heterozygote
- Homozygote
- Humans
- Male
- Multigene Family
- Neural Conduction
- Pedigree
- Phenotype
- Scoliosis