Article
Overexpression of DM20 messenger RNA in two brothers with Pelizaeus-Merzbacher disease.
Annals of neurology - 1 Oct 1995
Carango P, Funanage V L, Quirós R E, Debruyn C S, Marks H G
Abstract excerpt
Pelizaeus-Merzbacher disease is a rare, sex-linked recessive, dysmyelinating disease of the central nervous system that has been associated with mutations in the myelin proteolipid protein (PLP) gene. Only 25% of patients studied with Pelizaeus-Merzbacher disease have exonic mutations in this gene, the underlying cause of the disease in the remaining patients is unknown. The PLP gene encodes two major...
Topics
- Adolescent
- Adult
- Base Sequence
- Cells, Cultured
- Child
- Child, Preschool
- Diffuse Cerebral Sclerosis of Schilder
- Female
- Fibroblasts
- Gene Expression
- Heterozygote
- Humans
