Article
A missense mutation in the proteolipid protein gene responsible for Pelizaeus-Merzbacher disease in a Japanese family.
Human molecular genetics - 1 Jan 1993
Iwaki A, Muramoto T, Iwaki I, Furumi H, Dario-deLeon M L, Tateishi J, Fukumaki Y
Abstract excerpt
We investigated the proteolipid protein (PLP) gene of two boys in a Japanese family with Pelizaeus-Merzbacher disease (PMD), an X-linked neurologic disorder characterized by dysmyelination in the central nervous system (CNS). The patients showed similar clinical signs from birth and autopsy on th...
Topics
- Adolescent
- Alleles
- Amino Acid Sequence
- Base Sequence
- Brain
- Child
- Diffuse Cerebral Sclerosis of Schilder
- Female
- Humans
- Japan
- Male
- Molecular Sequence Data
- Myelin Proteins
- Myelin Proteolipid Protein
- Oligodendroglia
- Oligodeoxyribonucleotides
- Polymerase Chain Reaction
- RNA, Messenger