Article
A 4-base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome.
Annals of neurology - 1 Jan 1999
De Coo I F, Renier W O, Ruitenbeek W, Ter Laak H J, Bakker M, Schägger H, Van Oost B A, Smeets H J
Abstract excerpt
Five patients with diminished activity of complex III of the mitochondrial respiratory chain have been screened for mutations in the mitochondrial cytochrome b (cyt b) gene. In 1 patient, a young boy with an akinetic rigid syndrome and a mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS), a novel 4-base pair deletion was identified. This mutation in this highly conserved gene is...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.