Article
[High resolution respirometry in diagnostic of mitochondrial disorders caused by mitochondrial complex I deficiency].
Biomeditsinskaia khimiia - 1 Jul 2017
Krylova T D, Tsygankova P G, Itkis Yu S, Sheremet N L, Nevinitsyna T A, Mikhaylova S V, Zakharova E Yu
Abstract excerpt
Complex I (CI) deficiency is one of the most common defects in the OXPHOS system; it represents more than 30% cases of mitochondrial diseases. The group is characterized by clinical and genetic heterogeneity and comprise several nosological forms. The most prevalent phenotypes for CI are LHON and Leigh syndrome. In this study we have analyzed skin fibroblasts from 11 patients with mutations in mtDNA, which cause...
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