Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy

Author:

Sommerville Ewen W.1,Ng Yi Shiau1,Alston Charlotte L.1,Dallabona Cristina2,Gilberti Micol2,He Langping1,Knowles Charlotte1,Chin Sophie L.1,Schaefer Andrew M.1,Falkous Gavin1,Murdoch David3,Longman Cheryl4,de Visser Marianne5,Bindoff Laurence A.6,Rawles John M.7,Dean John C. S.8,Petty Richard K.9,Farrugia Maria E.9,Haack Tobias B.10,Prokisch Holger10,McFarland Robert1,Turnbull Douglass M.1,Donnini Claudia2,Taylor Robert W.1,Gorman Gráinne S.1

Affiliation:

1. Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, England

2. Department of Life Sciences, University of Parma, Parma, Italy

3. Department of Cardiology, Queen Elizabeth University Hospital, Glasgow, Scotland

4. West of Scotland Regional Genetics Service, Queen Elizabeth University Hospital, Glasgow, Scotland

5. Department of Neurology, Academic Medical Centre, Amsterdam, the Netherlands

6. Department of Clinical Medicine, Department of Clinical Medicine, University of Bergen, Bergen, Norway7Department of Neurology, Haukeland University Hospital, Bergen, Norway

7. Department of Medicine, University of Aberdeen, Aberdeen, Scotland (retired)

8. Department of Medical Genetics, Medical School Building, University of Aberdeen, Aberdeen, Scotland

9. Institute of Neurological Sciences, Queen Elizabeth University Hospital, Glasgow, Scotland

10. Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany12Institute of Human Genetics, Technische Universität München, Munich, Germany

Publisher

American Medical Association (AMA)

Subject

Neurology (clinical)

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