Article
Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease.
Neuromolecular medicine - 1 Jan 2006
Züchner Stephan, Vance Jeffery M
Abstract excerpt
The autosomal-dominant axonal peripheral neuropathies comprise a genetically heterogeneous group of disorders that are clinically subsumed under Charcot-Marie-Tooth disease type 2 (CMT2). A significant increase in the number of genes underlying major forms of CMT2 has improved the classification of specific CMT phenotypes. The molecular dissection of cellular functions of the related gene products has only begun...
Topics
- Adaptor Proteins, Signal Transducing
- Axons
- Carrier Proteins
- Cell Cycle Proteins
- Charcot-Marie-Tooth Disease
- Chromosome Disorders
- Chromosomes, Human, Pair 12
- GTP Phosphohydrolases
- Genes, Dominant
- HSP27 Heat-Shock Proteins
- Heat-Shock Proteins