Biochemical analysis of fibroblasts from patients with cytochrome c oxidase-associated Leigh syndrome.

Abstract

Cultured skin fibroblasts from four patients with Leigh syndrome and cytochrome c oxidase deficiency were studied. Mitochondrial DNA (mtDNA) analysis excluded large-scale deletions and known point mutations associated with Leigh syndrome. The COX activities were reduced to 18-44% of healthy probands, when measured in the presence of laurylmaltoside. COX… (More)

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@article{Possekel1996BiochemicalAO, title={Biochemical analysis of fibroblasts from patients with cytochrome c oxidase-associated Leigh syndrome.}, author={Stefanie Possekel and C{\'e}cile Marsac and Bernhard Kadenbach}, journal={Biochimica et biophysica acta}, year={1996}, volume={1316 3}, pages={153-9} }