Article
A case of Pelizaeus-Merzbacher disease showing increased dosage of the proteolipid protein gene.
Neuropathology and applied neurobiology - 1 Apr 1995
Harding B, Ellis D, Malcolm S
Abstract excerpt
Clinical, neuropathological and molecular genetic studies in a 9 month old boy with Pelizaeus-Merzbacher disease are described. The principal clinical features were developmental delay, nystagmus, stridor and seizures. Both brain and spinal cord showed almost complete absence of stainable central...
Topics
- DNA Probes
- Diffuse Cerebral Sclerosis of Schilder
- Gene Expression
- Humans
- Infant
- Male
- Multigene Family
- Myelin Proteins
- Myelin Proteolipid Protein
- Phenotype
- Spinal Cord
- X Chromosome