Article
Glycine receptor beta-subunit gene mutation in spastic mouse associated with LINE-1 element insertion.
Nature genetics - 1 Jun 1994
Kingsmore S F, Giros B, Suh D, Bieniarz M, Caron M G, Seldin M F
Abstract excerpt
Congenital myoclonus is a widespread neurologic disorder characterized by hyperexcitability, muscular spasticity and myoclonus associated with marked reduction in neural glycine binding sites. The recessive mouse mutation spastic (spa) is a prototype of inherited myoclonus. Here we show that defe...
Topics
- Amino Acid Sequence
- Animals
- Base Sequence
- Brain
- Chromosome Mapping
- DNA, Complementary
- Disease Models, Animal
- Gene Expression
- Introns
- Mice
- Mice, Neurologic Mutants
- Molecular Sequence Data
- Mutation
- Myoclonus
- Polymerase Chain Reaction
- Receptors, Glycine
- Retroelements