A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis

@article{Haut2003ADI,
  title={A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis},
  author={Sandrine Haut and Mich{\`e}le Brivet and Guy Touati and Pierre Rustin and Sophie Lebon and Angela Garcia-Cazorla and Jean Marie Saudubray and Audrey Boutron and Alain Legrand and Abdelhamid Slama},
  journal={Human Genetics},
  year={2003},
  volume={113},
  pages={118-122}
}
Mitochondrial respiratory chain complex III (ubiquinol-cytochrome c reductase) consists of 11 subunits, only one (cytochrome b) being encoded by the mitochondrial DNA. Disorders of complex III are comparatively rare but are nevertheless present as a clinically heterogeneous group of diseases. To date, no mutation in any of the nuclear-encoded subunits has been described. We report here a deletion in the nuclear gene UQCRB encoding the human ubiquinone-binding protein of complex III (QP-C… CONTINUE READING
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