Retrospective natural history of thymidine kinase 2 deficiency

Caterina Garone; Robert W Taylor; Andrés Nascimento; Joanna Poulton; Carl Fratter; Cristina Domínguez-González; Julie C Evans; Mariana Loos; Pirjo Isohanni; Anu Suomalainen; Dipak Ram; M Imelda Hughes; Robert McFarland; Emanuele Barca; Carlos Lopez Gomez; Sandeep Jayawant; Neil D Thomas; Adnan Y Manzur; Karin Kleinsteuber; Miguel A Martin; Timothy Kerr; Grainne S Gorman; Ewen W Sommerville; Patrick F Chinnery; Monika Hofer; Christoph Karch; Jeffrey Ralph; Yolanda Cámara; Marcos Madruga-Garrido; Jana Domínguez-Carral; Carlos Ortez; Sonia Emperador; Julio Montoya; Anupam Chakrapani; Joshua F Kriger; Robert Schoenaker; Bruce Levin; John L P Thompson; Yuelin Long; Shamima Rahman; Maria Alice Donati; Salvatore DiMauro; Michio Hirano

doi:10.1136/jmedgenet-2017-105012

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Retrospective natural history of thymidine kinase 2 deficiency

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Caterina Garone Department of Neurology, Columbia University Medical Center, New York City, New York, USA MRC Mitochondrial Biology Unit, Cambridge Biomedical Campus, Cambridge, UK PubMed articles Google scholar articles
Robert W Taylor Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK PubMed articles Google scholar articles
Andrés Nascimento Neuromuscular Unit, Hospital Universitario 12 de Octubre, Madrid, Spain PubMed articles Google scholar articles
Joanna Poulton Nuffield Department of Obstetrics and Gynaecology, University of Oxford, Oxford, UK PubMed articles Google scholar articles
Carl Fratter Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK PubMed articles Google scholar articles
Cristina Domínguez-González Neuromuscular Unit, Hospital Universitario 12 de Octubre, Madrid, Spain Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain Instituto de Investigación, Hospital Universitario 12 de Octubre, Madrid, Spain PubMed articles Google scholar articles
Julie C Evans Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK PubMed articles Google scholar articles
Mariana Loos Neurology Department, Hospital de Pediatría ‘Prof. Dr JP Garrahan’, Buenos Aires, Argentina PubMed articles Google scholar articles
Pirjo Isohanni Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland Department of Child Neurology, Children’s Hospital, University of Helsinki, Helsinki University Hospital, Helsinki, Finland PubMed articles Google scholar articles
Anu Suomalainen Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland Neuroscience Center, University of Helsinki, Helsinki, Finland Department of Neurology, Helsinki University Hospital, Helsinki, Finland PubMed articles Google scholar articles
Dipak Ram Department of Paediatric Neurology, Royal Manchester Children’s Hospital, Manchester, UK PubMed articles Google scholar articles
M Imelda Hughes Department of Paediatric Neurology, Royal Manchester Children’s Hospital, Manchester, UK PubMed articles Google scholar articles
Robert McFarland Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK PubMed articles Google scholar articles
Emanuele Barca Department of Neurology, Columbia University Medical Center, New York City, New York, USA UOC Neurology and Neuromuscular Diseases, Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy PubMed articles Google scholar articles
Carlos Lopez Gomez Department of Neurology, Columbia University Medical Center, New York City, New York, USA PubMed articles Google scholar articles
Sandeep Jayawant Paediatric Neurology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK PubMed articles Google scholar articles
Neil D Thomas Paediatric Neurology, University Hospital Southampton NHS Foundation Trust, Southampton, UK PubMed articles Google scholar articles
Adnan Y Manzur Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK PubMed articles Google scholar articles
Karin Kleinsteuber Pediatric Neurology, Faculty of Medicine, Universidad de Chile, Clínica Las Condes, Santiago, Chile PubMed articles Google scholar articles
Miguel A Martin Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain Instituto de Investigación, Hospital Universitario 12 de Octubre, Madrid, Spain PubMed articles Google scholar articles
Timothy Kerr Paediatric Neurology, St George’s University Hospitals NHS Foundation Trust, London, UK PubMed articles Google scholar articles
Grainne S Gorman Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK PubMed articles Google scholar articles
Ewen W Sommerville Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, The Medical School, Newcastle University, Newcastle upon Tyne, UK PubMed articles Google scholar articles
Patrick F Chinnery MRC Mitochondrial Biology Unit, Cambridge Biomedical Campus, Cambridge, UK Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK PubMed articles Google scholar articles
Monika Hofer Department of Neuropathology, Oxford University Hospitals NHS Foundation Trust, Oxford, UK PubMed articles Google scholar articles
Christoph Karch Department of Neurology, University of California San Francisco, San Francisco, California, USA PubMed articles Google scholar articles
Jeffrey Ralph Department of Neurology, University of California San Francisco, San Francisco, California, USA PubMed articles Google scholar articles
Yolanda Cámara Research Group on Neuromuscular and Mitochondrial Disorders, Vall d’Hebron Institut de Recerca, Barcelona, Spain Centre for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain PubMed articles Google scholar articles
Marcos Madruga-Garrido Sección de Neuropediatría, Hospital Universitario Virgen del Rocío, Instituto de Biomedicina de Sevilla, Seville, Spain PubMed articles Google scholar articles
Jana Domínguez-Carral Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, CIBERER, ISCIII, Universitat de Barcelona, Barcelona, Spain PubMed articles Google scholar articles
Carlos Ortez Neuromuscular Unit, Hospital Universitario 12 de Octubre, Madrid, Spain PubMed articles Google scholar articles
Sonia Emperador Department of Biochemistry and Molecular Biology, University of Zaragoza–CIBERER–Instituto de investigaciones Sanitarias de Aragón, Zaragoza, Spain PubMed articles Google scholar articles
Julio Montoya Department of Biochemistry and Molecular Biology, University of Zaragoza–CIBERER–Instituto de investigaciones Sanitarias de Aragón, Zaragoza, Spain PubMed articles Google scholar articles
Anupam Chakrapani Metabolic Unit, Great Ormond Street Hospital NHS Foundation Trust, London, UK PubMed articles Google scholar articles
Joshua F Kriger Department of Biostatistics, Mailman School of Public Health, Columbia University Medical Center, New York City, New York, USA PubMed articles Google scholar articles
Robert Schoenaker Department of Neurology, Columbia University Medical Center, New York City, New York, USA PubMed articles Google scholar articles
Bruce Levin Department of Biostatistics, Mailman School of Public Health, Columbia University Medical Center, New York City, New York, USA PubMed articles Google scholar articles
John L P Thompson Department of Biostatistics, Mailman School of Public Health, Columbia University Medical Center, New York City, New York, USA PubMed articles Google scholar articles
Yuelin Long Department of Biostatistics, Mailman School of Public Health, Columbia University Medical Center, New York City, New York, USA PubMed articles Google scholar articles
Shamima Rahman Metabolic Unit, Great Ormond Street Hospital NHS Foundation Trust, London, UK Mitochondrial Research Group, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, London, UK PubMed articles Google scholar articles
Maria Alice Donati Metabolic and Neuromuscular Unit, Meyer Hospital, Florence, Italy PubMed articles Google scholar articles
Salvatore DiMauro Department of Neurology, Columbia University Medical Center, New York City, New York, USA PubMed articles Google scholar articles
Michio Hirano Department of Neurology, Columbia University Medical Center, New York City, New York, USA PubMed articles Google scholar articles

Correspondence to Dr Michio Hirano, Department of Neurology, Columbia University Medical Center, New York City, NY 10032, USA; mh29{at}columbia.edu

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Citation

Garone C, Taylor RW, Nascimento A, et al

Retrospective natural history of thymidine kinase 2 deficiency

Journal of Medical Genetics 2018;55:515-521.

Publication history

Received October 3, 2017
Revised March 2, 2018
Accepted March 11, 2018
First published March 30, 2018.

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July 24, 2018

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© Author(s) (or their employer(s)) 2018. Re-use permitted under CC BY. Published by BMJ. This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/4.0/.

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