Article
Chip-based mtDNA mutation screening enables fast and reliable genetic diagnosis of OXPHOS patients.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2006
van Eijsden Rudy G E, Gerards Mike, Eijssen Lars M T, Hendrickx Alexandra T M, Jongbloed Roselie J E, Wokke John H J, Hintzen Rogier Q, Rubio-Gozalbo Maria E, De Coo Irenaeus F M, Briem Egill, Tiranti Valeria, Smeets Hubert J M
Abstract excerpt
PURPOSE: Oxidative phosphorylation is under dual genetic control of the nuclear and the mitochondrial DNA (mtDNA). Oxidative phosphorylation disorders are clinically and genetically heterogeneous, which makes it difficult to determine the genetic defect, and symptom-based protocols which link clinical symptoms directly to a specific gene or mtDNA mutation are falling short. Moreover, approximately 25% of the...
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