Article
Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNA(Phe) gene.
Neurology - 9 Feb 2010
Zsurka G, Hampel K G, Nelson I, Jardel C, Mirandola S R, Sassen R, Kornblum C, Marcorelles P, Lavoué S, Lombès A, Kunz W S
Abstract excerpt
OBJECTIVE: To present 2 families with maternally inherited severe epilepsy as the main symptom of mitochondrial disease due to point mutations at position 616 in the mitochondrial tRNA(Phe) (MT-TF) gene. METHODS: Histologic stainings were performed on skeletal muscle slices from the 2 index patients. Oxidative phosphorylation activity was measured by oxygraphic and spectrophotometric methods. The patients'...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.