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 to be autosomal dominant. Twenty years later, we reinterpreted the inheritance pattern as maternal. Mitochondrial DNA...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.