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Original research
Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study

Authors

  • Kristoffer Björkman Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, SwedenThe Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Gothenburg, Sweden PubMed articlesGoogle scholar articles
  • John Vissing Copenhagen Neuromuscular Centre, Rigshospitalet, Kobenhavn, Denmark PubMed articlesGoogle scholar articles
  • Elsebet Østergaard Department of Clinical Genetics, Rigshospitalet, Kobenhavn, DenmarkDepartment of Clinical Medicine, University of Copenhagen, Kobenhavn, Denmark PubMed articlesGoogle scholar articles
  • Laurence A Bindoff Department of Clinical Medicine (K1), University of Bergen, Bergen, NorwayNeuro-SysMed, Department of Neurology, Haukeland University Hospital, Bergen, Norway PubMed articlesGoogle scholar articles
  • Irenaeus F M de Coo Department of Toxicogenomics, Unit Clinical Genomics, Maastricht University, Maastricht, The NetherlandsMaastricht University School for Mental Health and Neuroscience, Maastricht, The Netherlands PubMed articlesGoogle scholar articles
  • Martin Engvall Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, SwedenDepartment of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden PubMed articlesGoogle scholar articles
  • Omar Hikmat Department of Clinical Medicine (K1), University of Bergen, Bergen, NorwayDepartment of Pediatrics, Haukeland University Hospital, Bergen, Norway PubMed articlesGoogle scholar articles
  • Pirjo Isohanni Research Programs Unit, Stem Cells and Metabolism, Faculty of Medicine, University of Helsinki, Helsinki, FinlandUniversity of Helsinki Children's Hospital, Helsinki, Finland PubMed articlesGoogle scholar articles
  • Gittan Kollberg Department of Clinical Chemistry, University of Gothenburg, Gothenburg, Sweden PubMed articlesGoogle scholar articles
  • Christopher Lindberg Department of Neurology, Neuromuscular Center, Sahlgrenska University Hospital, Gothenburg, Sweden PubMed articlesGoogle scholar articles
  • Kari Majamaa Medical Research Center, Oulu University Faculty of Medicine, Oulu, FinlandMedical Research Center, Oulu University Hospital, Oulu, Finland PubMed articlesGoogle scholar articles
  • Karin Naess Center for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, SwedenDepartment of Medical Biochemistry and Biophysics, Karolinska Institute, Stockholm, Sweden PubMed articlesGoogle scholar articles
  • Johanna Uusimaa PEDEGO Research Unit, Oulu University Faculty of Medicine, Oulu, FinlandClinic for Children and Adolescents and Medical Research Center, Oulu University Hospital, Oulu, Finland PubMed articlesGoogle scholar articles
  • Mar Tulinius Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, SwedenThe Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Gothenburg, Sweden PubMed articlesGoogle scholar articles
  • Niklas Darin Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, SwedenThe Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Gothenburg, Sweden PubMed articlesGoogle scholar articles
  1. Correspondence to Mr Kristoffer Björkman, Department of Pediatrics, University of Gothenburg Institute of Clinical Sciences, Gothenburg, Sweden; kristoffer.bjorkman{at}gu.se
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Citation

Björkman K, Vissing J, Østergaard E, et al
Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study

Publication history

  • Received June 14, 2021
  • Accepted November 9, 2021
  • First published December 6, 2021.

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