Article
Transmission and prenatal diagnosis of the T9176C mitochondrial DNA mutation.
Molecular human reproduction - 1 Mar 2005
Jacobs L J A M, de Coo I F M, Nijland J G, Galjaard R J H, Los F J, Schoonderwoerd K, Niermeijer M F, Geraedts J P M, Scholte H R, Smeets H J M
Abstract excerpt
A family presented with three affected children with Leigh syndrome, a progressive neurodegenerative disorder. Analysis of the OXPHOS complexes in muscle of two affected patients showed an increase in activity of pyruvate dehydrogenase and a decrease of complex V activity. Mutation analysis revealed the T9176C mutation in the mtATPase 6 gene (OMIM 516060) and the mutation load was above 90% in the patients....
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