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Oxidative Medicine and Cellular Longevity
Volume 2017, Article ID 7202589, 11 pages
https://doi.org/10.1155/2017/7202589
Research Article

Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies

1Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria
2Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, 8010 Graz, Austria
3Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany
4Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany
5Clinical Institute of Medical and Chemical Laboratory Diagnostics, Medical University of Graz, 8010 Graz, Austria
6Division of Neonatology, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, 8010 Graz, Austria
7Department of Human Genetics, Medical University of Graz, 8010 Graz, Austria
8Laura Bassi Centre of Expertise-THERAPEP, Research Program for Receptor Biochemistry and Tumor Metabolism, Department of Pediatrics, Paracelsus Medical University, 5020 Salzburg, Austria
9Department for Paediatric and Adolescent Medicine, Schwabing Hospital, Technische Universität München, 80804 Munich, Germany

Correspondence should be addressed to René G. Feichtinger; ta.klas@regnithcief.r

Received 26 January 2017; Revised 22 March 2017; Accepted 4 June 2017; Published 19 July 2017

Academic Editor: Maik Hüttemann

Copyright © 2017 René G. Feichtinger et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Supplementary Material

Supplementary table 1: Prediction of pathogenicity.

  1. Supplementary Material