Article
A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease.
American journal of medical genetics - 1 Jan 1991
Pratt V M, Trofatter J A, Schinzel A, Dlouhy S R, Conneally P M, Hodes M E
Abstract excerpt
A C-to-T transition in exon 4 of the PLP gene was found in 2 affected males and two obligate carriers in a German family with Pelizaeus-Merzbacher disease. The mutation, which causes loss of an HphI site and changes amino acid 155 from threonine to isoleucine, was absent from 108 normal chromosomes. There are 5 concordances and 1 discrepancy between these results and those obtained by magnetic resonance imaging...
Topics
- Diffuse Cerebral Sclerosis of Schilder
- Exons
- Female
- Heterozygote
- Humans
- Isoleucine
- Magnetic Resonance Imaging
- Male
- Mutation
- Myelin Proteins
- Myelin Proteolipid Protein