Accepted for Publication: April 23, 2013.
Published Online: October 7, 2013. doi:10.1001/jamaneurol.2013.3242.
Drs Pitceathly and Hanna had full access to all of the data in the study and takes responsibility for the integrity of the data and the accuracy of the data analysis.
Study concept and design: Pitceathly, Taanman, Rahman, Reilly, Hanna.
Acquisition of data: Pitceathly, Taanman, Rahman, Meunier, Sadowski, Cirak, Hargreaves, Land, Nanji, Polke, Woodward, Sweeney, Solanki, Foley, Hurles, Stalker, Blake, Holton, Phadke, Muntoni.
Analysis and interpretation of data: Pitceathly, Taanman, Rahman, Meunier, Sadowski, Cirak, Hargreaves, Land, Nanji, Polke, Woodward, Sweeney, Solanki, Foley, Hurles, Stalker, Blake, Holton, Phadke, Muntoni.
Drafting of the manuscript: Pitceathly.
Critical revision of the manuscript for important intellectual content: Taanman, Rahman, Meunier, Sadowski, Cirak, Hargreaves, Land, Nanji, Polke, Woodward, Sweeney, Solanki, Foley, Hurles, Stalker, Blake, Holton, Phadke, Muntoni, Reilly, Hanna.
Study supervision: Taanman, Rahman, Reilly, Hanna.
Conflict of Interest Disclosures: None reported.
Funding/Support: Funding for the UK10K Consortium was provided by the Wellcome Trust under award WT091310. Dr Pitceathly is funded by the Medical Research Council (grant G0800674). Drs Taanman, Rahman, and Muntoni are supported by the Great Ormond Street Hospital Children’s Charity. Drs Reilly and Hanna are supported by Medical Research Council Centre for Neuromuscular Diseases grant G0601943. Dr Reilly received grant 1U54NS065712-01 from the Medical Research Council and the National Institute of Neurological Disorders and Stroke/Office of Rare Diseases. Drs Holton and Hanna are supported by the Myositis Support Group, and Dr Holton is also supported by the Reta Lila Weston Institute for Neurological Studies. Dr Sadowski is funded by Medical Research Council grant U117581331. Dr Foley is a Muscular Dystrophy Campaign Fellow, and Dr Cirak is supported by the EU FP7 Bio-NMD grant to Dr Muntoni. This study was supported by the UK NHS Specialised Service for Rare Mitochondrial Diseases of Adults and Children and the National Institute for Health Research University College London Hospitals/University College London Comprehensive Biomedical Research Centre, and was undertaken at University College London Hospitals/University College London, which received a proportion of funding from the Department of Health's National Institute for Health Research Biomedical Research Centres funding scheme.
Role of the Sponsor: The funding agencies had no role in the design and conduct of the study; collection, management, analysis, and interpretation of the data; and preparation, review, or approval of the manuscript; and decision to submit the manuscript for publication.
Group Information: The UK10K Consortium members are Saeed Al-Turki, Carl Anderson, Dinu Antony, Inês Barroso, Phil Beales, Jamie Bentham, Shoumo Bhattacharya, Keren Carss, Krishna Chatterjee, Sebahattin Cirak, Catherine Cosgrove, Petr Danecek, Richard Durbin, David Fitzpatrick, Jamie Floyd, A. Reghan Foley, Chris Franklin, Marta Futema, Steve E. Humphries, Matthew E. Hurles, Chris Joyce, Shane McCarthy, Hannah M. Mitchison, Dawn Muddyman, Franceso Muntoni, Stephen O’Rahilly, Alexandros Onoufriadis, Felicity Payne, Vincent Plagnol, Lucy Raymond, David B. Savage, Peter Scambler, Miriam Schmidts, Nadia Schoenmakers, Robert Semple, Eva Serra, Jim Stalker, Margriet van Kogelenberg, Parthiban Vijayarangakannan, Klaudia Walter, Ros Whittall, and Kathy Williamson.
Additional Contributions: We are extremely grateful to the patient and her family for their participation in this study, the UK10K Consortium for making the research possible, and Jean M. Jacobs, PhD, for contributing to the electron microscopy morphometric analysis.