Article
Common themes in peripheral neuropathy disease genes.
Cell biology international - 1 Nov 1998
Snipes G J, Orfali W
Abstract excerpt
After a century of study, mutations in connexin32, peripheral myelin protein22, and protein zero are now known to culminate in the prototypical phenotype of Charcot-Marie-Tooth disease. Many of these mutations have been modeled in rodents and in tissue culture. Consequently, structure-function pr...
Topics
- Amino Acid Sequence
- Animals
- Charcot-Marie-Tooth Disease
- Connexins
- Gene Expression
- Humans
- Mutation
- Myelin P0 Protein
- Myelin Proteins
- Myelin Sheath
- Peripheral Nerves
- Gap Junction beta-1 Protein