Homozygous deletion in MICU1 presenting with fatigue and lethargy in childhood
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Article Information
- Received October 19, 2015
- Accepted in final form January 8, 2016
- First Published March 3, 2016.
Author Disclosures
- David Lewis-Smith, MRCP, MA, MBBChir,
- Kimberli J. Kamer,
- Helen Griffin, PhD,
- Anne-Marie Childs, FRCPCH,
- Karen Pysden, FRCPCH,
- Denis Titov, PhD,
- Jennifer Duff, PhD,
- Angela Pyle, PhD,
- Robert W. Taylor, PhD,
- Patrick Yu-Wai-Man, FRCOPth,
- Venkateswaran Ramesh, FRCPCH,
- Rita Horvath, MD, PhD*,
- Vamsi K. Mootha, MD* and
- Patrick F. Chinnery, FRCP, FMedSci*
- David Lewis-Smith, MRCP, MA, MBBChir,
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- Kimberli J. Kamer,
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National Science Foundation Graduate Research Fellowship, 2011-2015
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- Helen Griffin, PhD,
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- Anne-Marie Childs, FRCPCH,
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- Karen Pysden, FRCPCH,
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- Denis Titov, PhD,
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Tosteson and Fund for Medical Discovery Postdoctoral Fellowship Award
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- Jennifer Duff, PhD,
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- Angela Pyle, PhD,
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- Robert W. Taylor, PhD,
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- Patrick Yu-Wai-Man, FRCOPth,
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(1) Medical Research Council (UK), Clinical Research Training Fellowship, 2008-2011 (2) Medical Research Council (UK), Clinician Scientist Fellowship, 2012-
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- Venkateswaran Ramesh, FRCPCH,
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- Rita Horvath, MD, PhD*,
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- Vamsi K. Mootha, MD* and
Raze Therapeutics, scientific advisory board
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Consultant for Raze Therapeutics, a for-profit biotech company
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I have given academic talks for which I have received speaker honoraria. These have been for academic colleges, universities, or hospitals.
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National Institutes of Health R24DK080261; Co-Investigator; funded for three years on this renewal grant
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Howard Hughes Medical Institute
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- Patrick F. Chinnery, FRCP, FMedSci*
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BRAIN, Associate Editor 2004
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Medical Research Council (UK)
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Wellcome Trust
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- From the Wellcome Trust Centre for Mitochondrial Research (D.L.-S., H.G., J.D., A.P., R.W.T., P.Y.-W.-M., R.H., P.F.C.), Institute of Genetic Medicine (D.L.-S., H.G., J.D., A.P., P.Y.-W.-M., R.H.), and Institute of Neuroscience (R.W.T.), Newcastle University, Newcastle upon Tyne, United Kingdom; Howard Hughes Medical Institute (K.J.K., D.T., V.K.M.), Department of Molecular Biology, Massachusetts General Hospital, Boston, MA; Department of Paediatric Neurology (A.-M.C., K.P.), The General Infirmary, Leeds, United Kingdom; Department of Child Neurology (V.R.), The Royal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Trust, Newcastle upon Tyne, United Kingdom; Department of Systems Biology (V.K.M.), Harvard Medical School, Boston, MA; Broad Institute (V.K.M.), Cambridge, MA; Department of Clinical Neurosciences (P.F.C.), University of Cambridge; and MRC Mitochondrial Biology Unit (P.F.C.), Cambridge Biomedical Campus, United Kingdom.
- Correspondence to Dr. Chinnery: pfc25{at}medschl.cam.ac.uk
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