Stability of the m.8993T->G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndrome.

@article{Steffann2007StabilityOT,
  title={Stability of the m.8993T->G mtDNA mutation load during human embryofetal development has implications for the feasibility of prenatal diagnosis in NARP syndrome.},
  author={Julie Steffann and Nadine Gigarel and Johanna Corcos and Maryse Bonni{\`e}re and F{\'e}r{\'e}cht{\'e} Encha-Razavi and Martine Sinico and Sophie Pr{\'e}v{\^o}t and Yves Dumez and Amina Yamgnane and Ren{\'e} Frydman and Arnold Munnich and Jean Paul Bonnefont},
  journal={Journal of medical genetics},
  year={2007},
  volume={44 10},
  pages={664-9}
}
BACKGROUND Mitochondrial DNA (mtDNA) mutations cause a wide range of serious genetic diseases with maternal inheritance. Because of the high transmission risk and the absence of therapy in these disorders, at-risk couples often ask for prenatal diagnosis (PND). However, because heteroplasmy load (coexistence of mutant and wild-type mtDNA) may vary among tissues and with time, the possibility that a single fetal sample may not reflect the whole neonate impedes prenatal diagnosis of mtDNA… CONTINUE READING
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