Article
Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy.
Brain : a journal of neurology - 1 Feb 2016
Hallmann Kerstin, Kudin Alexei P, Zsurka Gábor, Kornblum Cornelia, Reimann Jens, Stüve Burkhard, Waltz Stephan, Hattingen Elke, Thiele Holger, Nürnberg Peter, Rüb Cornelia, Voos Wolfgang, Kopatz Jens, Neumann Harald, Kunz Wolfram S
Abstract excerpt
Isolated cytochrome c oxidase (complex IV) deficiency is one of the most frequent respiratory chain defects in humans and is usually caused by mutations in proteins required for assembly of the complex. Mutations in nuclear-encoded structural subunits are very rare. In a patient with Leigh-like syndrome presenting with leukodystrophy and severe epilepsy, we identified a homozygous splice site mutation in COX8A,...
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