Article
A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy.
Journal of medical genetics - 1 Nov 1998
Jaksch M, Hofmann S, Kleinle S, Liechti-Gallati S, Pongratz D E, Müller-Höcker J, Jedele K B, Meitinger T, Gerbitz K D
Abstract excerpt
COX deficiency is believed to be the most common defect in neonates and infants with mitochondrial diseases. To explore the causes of this group of disorders, we examined 25 mitochondrial genes (three COX subunit genes and 22 tRNA genes) and 10 nuclear COX subunit genes for disease associated mutations using PCR-SSCP and direct sequencing of polymorphic SSCP fragments. DNA from one patient with severe COX...
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