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Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria 49th Annual Meeting of the American-Society-of-Human-Genetics Scaglia, F., Sutton, V. R., Bodamer, O. A., Vogel, H., Shapira, S. K., Naviaux, R. K., Vladutiu, G. D. SAGE PUBLICATIONS INC. 2001: 136–38
Abstract
We report a patient with mitochondrial DNA depletion, partial complex II and IV deficiencies, and 3-methylglutaconic aciduria. Complex II deficiency has not been previously observed in mitochondrial DNA depletion syndromes. The observation of 3-methylglutaconic and 3-methylglutaric acidurias may be a useful indicator of a defect in respiratory chain function caused by mitochondrial DNA depletion.
View details for Web of Science ID 000171025300014
View details for PubMedID 11292221