Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases

Omar Hikmat, Karin Naess, Martin Engvall, Claus Klingenberg, Magnhild Rasmussen, Chantal M. E. Tallaksen, Eylert Brodtkorb, Elsebet Ostergaard, I. F. M. de Coo, Leticia Pias-Peleteiro, Pirjo Isohanni, Johanna Uusimaa, Niklas Darin, Shamima Rahman, Laurence A. Bindoff*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)726-736
Number of pages11
JournalJournal of Inherited Metabolic Disease
Volume43
Issue number4
DOIs
Publication statusPublished - Jul 2020

Keywords

  • Alpers syndrome
  • epilepsy
  • mitochondrial disease
  • POLG
  • stroke-like episodes
  • MUTATIONS
  • SPECTRUM
  • PARKINSONISM

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