Article
A point mutation at the X-chromosomal proteolipid protein locus in Pelizaeus-Merzbacher disease leads to disruption of myelinogenesis.
Biological chemistry Hoppe-Seyler - 1 Dec 1990
Weimbs T, Dick T, Stoffel W, Boltshauser E
Abstract excerpt
A group of inherited neurological disorders are the X-chromosome linked dysmyelinoses, in which myelin membranes of the CNS are missing or perturbed due to a strongly reduced number of differentiated oligodendrocytes. In animal dysmyelinoses (jimpy mouse, msd-mouse, md rat, shaking pup) mutations...
Topics
- Base Sequence
- Blotting, Southern
- Diffuse Cerebral Sclerosis of Schilder
- Female
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Myelin Proteins
- Myelin Proteolipid Protein
- Oligonucleotide Probes
- Pedigree
- Polymerase Chain Reaction
- Restriction Mapping
- Sex Chromosome Aberrations
- X Chromosome