Article
The mitochondrial DNA A8344G mutation in Leigh syndrome revealed by analysis in paraffin-embedded sections: revisiting the past.
Annals of neurology - 1 Dec 1998
Santorelli F M, Tanji K, Shanske S, Krishna S, Schmidt R E, Greenwood R S, DiMauro S, De Vivo D C
Abstract excerpt
In 1975, we presented the results of a study on a family with a constellation of features that included a chronic spinocerebellar syndrome, neuropathologically proven Leigh syndrome, and sudden death in infancy or childhood affecting several members over three generations. Inheritance was thought...
Topics
- Adolescent
- Adult
- Archives
- Base Sequence
- Child
- Child, Preschool
- DNA, Mitochondrial
- Female
- Humans
- Infant, Newborn
- Leigh Disease
- MERRF Syndrome
- Male
- Mutation
- Paraffin Embedding
- Pedigree