Article
X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus.
Nature genetics - 1 Mar 1994
Saugier-Veber P, Munnich A, Bonneau D, Rozet J M, Le Merrer M, Gil R, Boespflug-Tanguy O
Abstract excerpt
Three forms of X-linked spastic paraplegia (SPG) have been defined. One locus (SPG 1) maps to Xq28 while two clinically distinct forms map to Xq22 (SPG2). A rare X-linked dysmyelinating disorder of the central nervous system, Pelizaeus-Merzbacher disease (PMD), has also been mapped to Xq21-q22, a...
Topics
- Alleles
- Base Sequence
- Chromosome Mapping
- DNA Primers
- Diffuse Cerebral Sclerosis of Schilder
- Female
- Genetic Linkage
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Paraplegia
- Pedigree
- Phenotype
- Point Mutation
- Proteolipids
- X Chromosome