Article
A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2).
Human molecular genetics - 1 Feb 1999
Serratosa J M, Gómez-Garre P, Gallardo M E, Anta B, de Bernabé D B, Lindhout D, Augustijn P B, Tassinari C A, Malafosse R M, Topcu M, Grid D, Dravet C, Berkovic S F, de Córdoba S R
Abstract excerpt
Progressive myoclonus epilepsy of the Lafora type or Lafora disease (EPM2; McKusick no. 254780) is an autosomal recessive disorder characterized by epilepsy, myoclonus, progressive neurological deterioration and glycogen-like intracellular inclusion bodies (Lafora bodies). A gene for EPM2 previou...
Topics
- Amino Acid Sequence
- Base Sequence
- Chromosomes, Human, Pair 6
- DNA
- DNA Mutational Analysis
- DNA, Complementary
- Epilepsies, Myoclonic
- Female
- Genes
- Humans
- Male
- Microsatellite Repeats
- Molecular Sequence Data
- Mutation