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AC and EB contributed equally.
Contributors AC and EB are joint first authors. Study concept and design: AC, EB, SA, AHY, RQ, MGH, RDSP. Data acquisition and analysis: AC, EB, SA, OVP, IS, MS, LG, DK, SH, NJ, CW. Drafting the manuscript: AC, EB, RDSP.
Funding Part of this work was undertaken in the University College London Hospitals/University College London Queen Square Institute of Neurology sequencing facility, which received a proportion of funding from the Department of Health’s National Institute for Health Research Biomedical Research Centres funding scheme. The clinical and diagnostic 'Rare Mitochondrial Disorders' Service in London is funded by the UK NHS Highly Specialised Commissioners. We gratefully acknowledge the generous support of a Clore Duffield Foundation grant. RDSP is supported by a Medical Research Council Clinician Scientist Fellowship (MR/S002065/1).
Competing interests None declared.
Patient consent for publication Not required.
Ethics approval The study was approved by the Queen Square Research Ethics Committee, London (09/H0716/76).
Provenance and peer review Not commissioned; externally peer reviewed.