Article
Pelizaeus-Merzbacher disease: a valine to phenylalanine point mutation in a putative extracellular loop of myelin proteolipid.
Proceedings of the National Academy of Sciences of the United States of America - 1 Sept 1991
Pham-Dinh D, Popot J L, Boespflug-Tanguy O, Landrieu P, Deleuze J F, Boué J, Jollès P, Dautigny A
Abstract excerpt
In the central nervous system, myelin proteolipid protein isoforms (PLP and DM20) play an essential structural role in myelination. It has been shown in several species that myelination is impaired by molecular defects resulting from single base mutations in the PLP gene. We have used DNA amplification by polymerase chain reaction to study the PLP gene coding regions from 17 patients in 15 unrelated families with...
Topics
- Animals
- Base Sequence
- Cells, Cultured
- DNA
- Diffuse Cerebral Sclerosis of Schilder
- Female
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Myelin Proteins