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

K. Bjorkman*, J. Vissing, E. Ostergaard, L.A. Bindoff, I.F.M. de Coo, M. Engvall, O. Hikmat, P. Isohanni, G. Kollberg, C. Lindberg, K. Majamaa, K. Naess, J. Uusimaa, M. Tulinius, N. Darin

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Number of pages9
JournalJournal of Medical Genetics
DOIs
Publication statusE-pub ahead of print - 5 Dec 2021

Keywords

  • congenital
  • hereditary
  • and neonatal diseases and abnormalities
  • sequence deletion
  • paediatrics
  • phenotype
  • prognosis
  • KEARNS-SAYRE SYNDROME
  • PEARSON-SYNDROME
  • PREVALENCE
  • PROGRESSION
  • MANAGEMENT
  • DISORDERS
  • CHILDHOOD
  • DIAGNOSIS
  • FEATURES
  • COHORT

Cite this