Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

Author:

Taylor Robert W.1,Pyle Angela2,Griffin Helen2,Blakely Emma L.1,Duff Jennifer2,He Langping1,Smertenko Tania2,Alston Charlotte L.1,Neeve Vivienne C.2,Best Andrew2,Yarham John W.1,Kirschner Janbernd3,Schara Ulrike4,Talim Beril5,Topaloglu Haluk5,Baric Ivo6,Holinski-Feder Elke7,Abicht Angela7,Czermin Birgit7,Kleinle Stephanie7,Morris Andrew A. M.8,Vassallo Grace9,Gorman Grainne S.1,Ramesh Venkateswaran10,Turnbull Douglass M.1,Santibanez-Koref Mauro2,McFarland Robert11,Horvath Rita2,Chinnery Patrick F.2

Affiliation:

1. Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne, England

2. Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, England

3. Division of Neuropediatrics and Muscle Disorders, University Medical Center Freiburg, Freiburg, Germany

4. Department of Neuropediatrics, University of Essen, Essen, Germany

5. Department of Pediatrics, Hacettepe University, Ankara, Turkey

6. Department of Paediatrics, University Hospital Center Zagreb, School of Medicine, University of Zagreb, Zagreb, Croatia

7. Medical Genetics Center, Munich, Germany

8. Willink Biochemical Genetics Unit, Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester, England

9. Department of Paediatric Neurology, Central Manchester University Hospitals NHS Foundation Trust, Manchester, England

10. Department of Paediatric Neurology, Newcastle upon Tyne Hospitals NHS Trust, Newcastle upon Tyne, England

11. Wellcome Trust Centre for Mitochondrial Research, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne, England10Department of Paediatric Neurology, Newcastle upon Tyne Hospitals NHS Trust, Newcastle upon Tyne, En

Publisher

American Medical Association (AMA)

Subject

General Medicine

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