De novo mtDNA point mutations are common and have a low recurrence risk

Suzanne C. E. H. Sallevelt*, Christine E. M. de Die-Smulders, Alexandra T. M. Hendrickx, Debby M. E. I. Hellebrekers, Irenaeus F. M. de Coo, Charlotte L. Alston, Charlotte Knowles, Robert W. Taylor, Robert McFarland, Hubert J. M. Smeets

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)114-124
Number of pages11
JournalJournal of Medical Genetics
Volume54
Issue number2
DOIs
Publication statusPublished - Feb 2017

Keywords

  • mDNA mutations
  • de novo
  • prenatal diagnosis (PND)
  • genetic counselling
  • CYTOCHROME-B GENE
  • MITOCHONDRIAL-DNA MUTATION
  • COMPLEX-III DEFICIENCY
  • STOP-CODON MUTATION
  • PROGRESSIVE EXERCISE INTOLERANCE
  • HUMAN EMBRYOFETAL DEVELOPMENT
  • HEREDITARY OPTIC NEUROPATHY
  • OXIDASE SUBUNIT-II
  • G-GREATER-THAN
  • LEIGH-SYNDROME

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