Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases.,Journal of Inherited Metabolic Disease

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Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases.
Journal of Inherited Metabolic Disease ( IF 4.2 ) Pub Date : 2020-01-06 , DOI: 10.1002/jimd.12211
Omar Hikmat _{1,

2} , Karin Naess _{3,

4} , Martin Engvall _{3,

5} , Claus Klingenberg _{6,

7} , Magnhild Rasmussen _{8,

9} , Chantal Me Tallaksen _{10,

11} , Eylert Brodtkorb _{12,

13} , Elsebet Ostergaard ₁₄ , I F M de Coo _{15,

16} , Leticia Pias-Peleteiro ₁₇ , Pirjo Isohanni _{18,

19} , Johanna Uusimaa _{20,

21,

22} , Niklas Darin ₂₃ , Shamima Rahman _{24,

25} , Laurence A Bindoff _{2,

26}

Affiliation

Department of Pediatrics, Haukeland University Hospital, Bergen, Norway.
Department of Clinical Medicine (K1), University of Bergen, Bergen, Norway.
Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.
Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.
Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Department of Paediatric and Adolescent Medicine, University Hospital of North Norway, Tromso, Norway.
Paediatric Research Group, Department of Clinical Medicine, UiT - The Arctic University of Norway, Tromso, Norway.
Women and Children's Division, Department of Clinical Neurosciences for Children, Oslo University Hospital, Oslo, Norway.
Unit for Congenital and Hereditary Neuromuscular Disorders, Department of Neurology, Oslo University Hospital, Oslo, Norway.
Department of Neurology, Oslo University Hospital, Oslo, Norway.
Faculty of Medicine, Institute of Clinical Medicine, University of Oslo, Oslo, Norway.
Department of Neuroscience, Norwegian University of Science and Technology, Trondheim, Norway.
Department of Neurology and Clinical Neurophysiology, St. Olav's University Hospital, Trondheim, Norway.
Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.
Department of Neurology, Medical Spectrum Twente, Enschede, The Netherlands.
Department of Genetics and Cell Biology, University of Maastricht, Maastricht, The Netherlands.
Department of Neurology, Sant Joan de Déu Children's Hospital, Barcelona, Spain.
Department of Pediatric Neurology, Children's Hospital and Pediatric Research Center, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Stem Cells and Metabolism Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
PEDEGO Research Unit, University of Oulu, Oulu, Finland.
Biocenter Oulu, University of Oulu, Oulu, Finland.
Department of Pediatric Neurology, Clinic for Children and Adolescents, Medical Research Center, Oulu University Hospital, Oulu, Finland.
Department of Pediatrics, The Queen Silvia Children's Hospital, University of Gothenburg, Gothenburg, Sweden.
Mitochondrial Research Group, UCL Great Ormond Street Institute of Child Health, London, UK.
Metabolic Unit, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Department of Neurology, Haukeland University Hospital, Bergen, Norway.

Variants in POLG are one of the most common causes of inherited mitochondrial disease. Phenotypic classification of POLG disease has evolved haphazardly making it complicated and difficult to implement in everyday clinical practise. The aim of our study was to simplify the classification and facilitate better clinical recognition.

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