Article
Mutations in the proteolipid protein gene in Japanese families with Pelizaeus-Merzbacher disease.
Neurology - 1 Jan 1997
Inoue K, Osaka H, Kawanishi C, Sugiyama N, Ishii M, Sugita K, Yamada Y, Kosaka K
Abstract excerpt
Pelizaeus-Merzbacher disease (PMD) is a rare X-linked dysmyelinating disorder of the CNS resulting from abnormalities in the proteolipid protein (PLP) gene. Exonic mutations in the PLP gene are present in 10 to 25% of all cases. In investigating genotype-phenotype correlations, we screened five J...
Topics
- Apoproteins
- Asian People
- Child
- Child, Preschool
- Diffuse Cerebral Sclerosis of Schilder
- Female
- Humans
- Japan
- Male
- Mutation
- Myelin Proteolipid Protein
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length