Article
A novel mutation in COQ2 leading to fatal infantile multisystem disease.
Journal of the neurological sciences - 15 Mar 2013
Jakobs Bernadette S, van den Heuvel Lambert P, Smeets Roel J P, de Vries Maaike C, Hien Steffen, Schaible Thomas, Smeitink Jan A M, Wevers Ron A, Wortmann Saskia B, Rodenburg Richard J T
Abstract excerpt
Coenzyme Q10 (ubiquinone or CoQ10) serves as a redox carrier in the mitochondrial oxidative phosphorylation system. The reduced form of this lipid-soluble antioxidant (ubiquinol) is involved in other metabolic processes as well, such as preventing reactive oxygen species (ROS) induced damage from the mitochondrial membrane. Primary coenzyme Q10 deficiency is a rare, autosomal recessive disorder, often presenting...
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