Article
Phenotypic heterogeneity and disease course in three murine strains with mutations in genes encoding for alpha 1 and beta glycine receptor subunits.
Movement disorders : official journal of the Movement Disorder Society - 1 Mar 1997
Simon E S
Abstract excerpt
Impaired glycinergic inhibition causes human hyperekplexia, and may be involved in the pathogenesis of movement disorders associated with uremia, spinal cord lesions, DDT poisoning, and tetanus. Three autosomal recessive mutant mouse strains with single-gene mutations affecting either the alpha 1...
Topics
- Animals
- Chromosome Aberrations
- Chromosome Disorders
- DNA Mutational Analysis
- Female
- Genes, Recessive
- Genetic Carrier Screening
- Humans
- Male
- Mice
- Mice, Neurologic Mutants
- Motor Activity
