Article
Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene.
Annals of neurology - 1 Oct 1998
Jaksch M, Klopstock T, Kurlemann G, Dörner M, Hofmann S, Kleinle S, Hegemann S, Weissert M, Müller-Höcker J, Pongratz D, Gerbitz K D
Abstract excerpt
We report seven unrelated families with mitochondrial tRNA(Ser(UCN)) gene mutations at three different loci. A novel G7497A mutation is found in two families, both of which present with progressive myopathy, ragged-red fibers, lactic acidosis, and deficiency of respiratory chain complexes I and I...
Topics
- Adolescent
- Adult
- Child
- Child, Preschool
- Disease Progression
- Electron Transport
- Epilepsies, Myoclonic
- Female
- Humans
- Male
- Middle Aged
- Mitochondrial Myopathies
- Muscles
- Mutation
- Pedigree
- RNA, Transfer, Amino Acyl