Complex II deficiency--a case report and review of the literature.

Abstract

Complex II deficiency is a rare cause of mitochondrial respiratory chain defects with a prevalence of 2-23%. It is exclusively nuclear encoded and functions in the citric acid cycle by oxidizing succinate to fumarate and in the mitochondrial electron transport chain (ETC) by transferring electrons to ubiquinone. Of the four subunits, SDHA and SDHB are… (More)
DOI: 10.1002/ajmg.a.35714

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@article{JainGhai2013ComplexID, title={Complex II deficiency--a case report and review of the literature.}, author={Shailly Jain-Ghai and J. M. Hurd Cameron and Almundher Al Maawali and Susan Blaser and Nevena Mackay and Brian Robinson and Julian A. J. Raiman}, journal={American journal of medical genetics. Part A}, year={2013}, volume={161A 2}, pages={285-94} }