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neurogenetics

, Volume 19, Issue 2, pp 131–132 | Cite as

Phenotypic manifestations of the m.8969G>A variant

  • Josef FinstererEmail author
  • Sinda Zarrouk-Mahjoub
Letter to Editor
  • 88 Downloads

Notes

Author contributions

JF: design, literature search, discussion, first draft, SZ-M: literature search, discussion, critical comments.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflicts of interest.

References

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    Isohanni P, Carroll CJ, Jackson CB, Pohjanpelto M, Lönnqvist T, Suomalainen A (2018) Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation-causing lactic acidosis, intellectual disability, and poor growth. Neurogenetics 19:49–53.  https://doi.org/10.1007/s10048-018-0537-9 CrossRefPubMedPubMedCentralGoogle Scholar
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    Finsterer J, Mancuso M, Pareyson D, Burgunder JM, Klopstock T (2017) Mitochondrial disorders of the retinal ganglion cells and the optic nerve. Mitochondrion.  https://doi.org/10.1016/j.mito.2017.10.003 CrossRefGoogle Scholar

Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Krankenanstalt RudolfstiftungViennaAustria
  2. 2.Pasteur Institute of TunisUniversity of Tunis El Manar and Genomics PlatformTunisTunisia

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