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Mitochondrial genetics
Review
Diagnosis of ‘possible’ mitochondrial disease: an existential crisis

Authors

  • Sumit Parikh Mitochondrial Medicine Center, Neurologic Institute, Cleveland Clinic, Cleveland, Ohio, USA PubMed articlesGoogle scholar articles
  • Amel Karaa Genetics Unit, Mitochondrial Disease Program, Massachusetts General Hospital, Boston, Massachusetts, USA PubMed articlesGoogle scholar articles
  • Amy Goldstein Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA PubMed articlesGoogle scholar articles
  • Enrico Silvio Bertini Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesu Children’s Hospital, IRCCS, Rome, Italy PubMed articlesGoogle scholar articles
  • Patrick F Chinnery MRC Mitochondrial Biology Unit and Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK PubMed articlesGoogle scholar articles
  • John Christodoulou Neurodevelopmental Genomics Research Group, Murdoch Children’s Research Institute, Melbourne, Victoria, Australia Department of Paediatrics, Melbourne Medical School, University of Melbourne, Melbourne, Victoria, Australia PubMed articlesGoogle scholar articles
  • Bruce H Cohen Department of Pediatrics and Rebecca D. Considine Research Institute, Akron Children’s Hospital, Akron, Ohio, USA Northeast Ohio Medical University, Rootstown, Ohio, USA PubMed articlesGoogle scholar articles
  • Ryan L Davis Northern Clinical School, University of Sydney, Sydney, New South Wales, Australia Department of Neurogenetics, Koling Institute, University of Sydney and Royal North Shore Hospital, Sydney, New South Wales, Australia PubMed articlesGoogle scholar articles
  • Marni J Falk Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA PubMed articlesGoogle scholar articles
  • Carl Fratter NHS Specialized Services for Rare Mitochondrial Disorders of Adults and Children UK, Oxford, UK Oxford Medical Genetics Laboratories, Oxford University, Oxford, UK PubMed articlesGoogle scholar articles
  • Rita Horvath Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK PubMed articlesGoogle scholar articles
  • Mary Kay Koenig Department of Pediatrics, Mitochondrial Center, University of Texas McGovern Medical School, Houston, Texas, USA PubMed articlesGoogle scholar articles
  • Michaelangelo Mancuso Department of Experimental and Clinical Medicine, Neurological Institute, University of Pisa, Pisa, Italy PubMed articlesGoogle scholar articles
  • Shana McCormack Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA PubMed articlesGoogle scholar articles
  • Elizabeth M McCormick Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA PubMed articlesGoogle scholar articles
  • Robert McFarland Institute of Neurosciences, Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle, UK PubMed articlesGoogle scholar articles
  • Victoria Nesbitt Institute of Neurosciences, Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Newcastle, UK NHS Highly Specialised Services for Rare Mitochondrial Disorders, Oxford University Hospitals, Oxford, UK PubMed articlesGoogle scholar articles
  • Manuel Schiff Reference Center for Inborn Errors of Metabolism, Robert-Debré University Hospital, APHP, UMR1141, PROTECT, INSERM, Université Paris-Diderot, Paris, France PubMed articlesGoogle scholar articles
  • Hannah Steele Wellcome Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK Department of Neurology, Sunderland Royal Hospital, Sunderland, UK PubMed articlesGoogle scholar articles
  • Silvia Stockler Department of Pediatrics, Division of Biochemical Diseases, University of British Columbia, Vancouver, Canada PubMed articlesGoogle scholar articles
  • Carolyn Sue Northern Clinical School, University of Sydney, Sydney, New South Wales, Australia Department of Neurogenetics, Koling Institute, University of Sydney and Royal North Shore Hospital, Sydney, New South Wales, Australia Department of Neurology, Royal North Shore Hospital, Sydney, NewSouth Wales, Australia PubMed articlesGoogle scholar articles
  • Mark Tarnopolsky Department of Pediatrics, Neuromuscular and Neurometabolic Clinic, McMaster University, Hamilton, Ontario, Canada PubMed articlesGoogle scholar articles
  • David R Thorburn Royal Children’s Hospital, Murdoch Childrens Research Institute, Melbourne, Victoria, Australia Victorian Clinical Genetics Services, Royal Children’s Hospital, Melbourne, Victoria, Australia Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia PubMed articlesGoogle scholar articles
  • Jerry Vockley Department of Pediatrics, University of Pittsburgh School of Medicine; Center for Rare Disease Therapy, Children’s Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA PubMed articlesGoogle scholar articles
  • Shamima Rahman Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK Metabolic Unit, Great Ormond Street Hospital NHS Foundation Trust, London, UK PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Sumit Parikh, Mitochondrial Medicine Center, Neurologic Institute, Cleveland Clinic, Cleveland OH 44195, USA; parikhs{at}ccf.org
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Citation

Parikh S, Karaa A, Goldstein A, et al
Diagnosis of ‘possible’ mitochondrial disease: an existential crisis
Journal of Medical Genetics 2019;56:123-130.

Publication history

  • Received October 12, 2018
  • Revised December 11, 2018
  • Accepted December 23, 2018
  • First published January 25, 2019.
Online issue publication 
February 22, 2019

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© Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.