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BioMed Research International
Volume 2015, Article ID 462592, 10 pages
http://dx.doi.org/10.1155/2015/462592
Research Article

ATP Synthase Deficiency due to TMEM70 Mutation Leads to Ultrastructural Mitochondrial Degeneration and Is Amenable to Treatment

1Edinger Institute, Institute of Neurology, Goethe University, 60528 Frankfurt am Main, Germany
2Department of Neuropediatrics, Goethe University, 60590 Frankfurt am Main, Germany
3Functional Proteomics, SFB815 Core Unit, Faculty of Medicine, Goethe University, Theodor-Stern-Kai 7, 60590 Frankfurt am Main, Germany
4Medical Genetic Center, 80336 Munich, Germany
5Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, Tyne and Wear NE1 3BZ, UK
6Department of Neuropathology, Charité, 10117 Berlin, Germany
7Department of Neuropathology, University Hospital, Johannes Gutenberg University Mainz, 55131 Mainz, Germany
8Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada M5G 1X8
9Genetics and Genome Biology, Peter Gilgan Center for Research and Learning, Toronto, ON, Canada M5G 0A4

Received 17 April 2015; Accepted 29 June 2015

Academic Editor: Michelangelo Mancuso

Copyright © 2015 Anne K. Braczynski 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.

How to Cite this Article

Anne K. Braczynski, Stefan Vlaho, Klaus Müller, et al., “ATP Synthase Deficiency due to TMEM70 Mutation Leads to Ultrastructural Mitochondrial Degeneration and Is Amenable to Treatment,” BioMed Research International, vol. 2015, Article ID 462592, 10 pages, 2015. https://doi.org/10.1155/2015/462592.