Mutation-specific effects in germline transmission of pathogenic mtDNA variants

Auke B. C. Otten, Suzanne C. E. H. Sallevelt, Phillippa J. Carling, Joseph C. F. M. Dreesen, Marion Drusedau, Sabine Spierts, Aimee D. C. Paulussen, Christine E. M. de Die-Smulders, Mary Herbert, Patrick F. Chinnery, David C. Samuels, Patrick Lindsey, Hubert J. M. Smeets*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)1331-1341
Number of pages11
JournalHuman Reproduction
Volume33
Issue number7
DOIs
Publication statusPublished - 1 Jul 2018

Keywords

  • mtDNA segregation
  • genetic drift
  • purifying selection
  • PGD
  • heteroplasmy
  • Kimura distribution
  • oxidative phosphorylation
  • mitochondrial membrane potential
  • MITOCHONDRIAL-DNA HETEROPLASMY
  • RANDOM GENETIC DRIFT
  • HUMAN EMBRYOFETAL DEVELOPMENT
  • LEIGH-SYNDROME
  • PRENATAL-DIAGNOSIS
  • NUCLEOTIDE 8993
  • IN-VITRO
  • PURIFYING SELECTION
  • RAPID SEGREGATION
  • HUMAN OOCYTES

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