Article
A (G-to-A) mutation in the initiation codon of the proteolipid protein gene causing a relatively mild form of Pelizaeus-Merzbacher disease in a Dutch family.
Human genetics - 1 Mar 1996
Sistermans E A, de Wijs I J, de Coo R F, Smit L M, Menko F H, van Oost B A
Abstract excerpt
Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive disorder that is characterized by dysmyelination of the central nervous system resulting from mutations in the proteolipid protein (PLP) gene. Mutations causing either overexpression or expression of a truncated form of PLP result in oli...
Topics
- Adult
- Base Sequence
- Codon, Initiator
- Diffuse Cerebral Sclerosis of Schilder
- Female
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Myelin Proteolipid Protein
- Netherlands
- Pedigree