Segregation of mtDNA Throughout Human Embryofetal Development: m.3243A > G as a Model System

@inproceedings{Monnot2011SegregationOM,
  title={Segregation of mtDNA Throughout Human Embryofetal Development: m.3243A > G as a Model System},
  author={Sophie Monnot and Nadine Gigarel and David C. Samuels and Philippe Burlet and Laetitia Hesters and N. Achour Frydman and Ren{\'e} Frydman and Violaine Kerbrat and Beno{\^i}t Funalot and Jelena Martinovic and Alexandra Benachi and Josu{\'e} Feingold and Arnold Munnich and J L Bonnefont and Julie Steffann},
  booktitle={Human mutation},
  year={2011}
}
Mitochondrial DNA (mtDNA) mutations cause a wide range of serious diseases with high transmission risk and maternal inheritance. Tissue heterogeneity of the heteroplasmy rate ("mutant load") accounts for the wide phenotypic spectrum observed in carriers. Owing to the absence of therapy, couples at risk to transmit such disorders commonly ask for prenatal (PND) or preimplantation diagnosis (PGD). The lack of data regarding heteroplasmy distribution throughout intrauterine development, however… CONTINUE READING
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