Article
Disease mechanisms and potential therapeutic strategies in Charcot-Marie-Tooth disease.
Brain research. Brain research reviews - 1 Oct 2001
Young P, Suter U
Abstract excerpt
Until 10 years ago, the genetic basis of Charcot-Marie-Tooth (CMT) disease was largely unknown. With the finding of an intrachromosomal duplication on chromosome 17 in 1991, associated with the most commonly found subtype CMT1A, and the discovery of a point mutation in the peripheral myelin protein-22 (pmp22) gene in the Trembler mouse in 1992, the groundwork was laid down for a novel chapter in the elucidation...
Topics
- Animals
- Charcot-Marie-Tooth Disease
- Disease Models, Animal
- Humans
- Mutation
- Myelin Proteins
- Myelin Sheath
- Peripheral Nerves