Article
A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors.
American journal of human genetics - 1 May 1996
Brune W, Weber R G, Saul B, von Knebel Doeberitz M, Grond-Ginsbach C, Kellerman K, Meinck H M, Becker C M
Abstract excerpt
Dominant missense mutations in the human glycine receptor (GlyR) alpha 1 subunit gene (GLRA1) give rise to hereditary hyperekplexia. These mutations impair agonist affinities and change conductance states of expressed mutant channels, resulting in a partial loss of function. In a recessive case o...
Topics
- Alleles
- Child
- Female
- Gene Deletion
- Genes, Recessive
- Humans
- Muscle Contraction
- Receptors, Glycine
- Stiff-Person Syndrome