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

Phenotypic manifestations of the m.8969G>A variant

  • Josef Finsterer
  • Sinda Zarrouk-Mahjoub
Letter to Editor


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.


  1. 1.
    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. CrossRefPubMedGoogle Scholar
  2. 2.
    Finsterer J, Zarrouk-Mahjoub S, Shoffner JM (2017) MERRF classification: implications for diagnosis, and clinical trials. Pediatr Neurol.
  3. 3.
    Kaufman KR, Zuber N, Rueda-Lara MA, Tobia A (2010) MELAS with recurrent complex partial seizures, nonconvulsive status epilepticus, psychosis, and behavioral disturbances: case analysis with literature review. Epilepsy Behav 18:494–497CrossRefPubMedGoogle Scholar
  4. 4.
    Finsterer J, Bindu PS (2015) Therapeutic strategies for mitochondrial disorders. Pediatr Neurol 52:302–313CrossRefPubMedGoogle Scholar
  5. 5.
    Bianco A, Bisceglia L, Russo L, Palese LL, D’Agruma L, Emperador S, Montoya J, Guerriero S, Petruzzella V (2017) High mitochondrial DNA copy number is a protective factor from vision loss in heteroplasmic Leber’s hereditary optic neuropathy (LHON). Invest Ophthalmol Vis Sci 58:2193–2197CrossRefPubMedGoogle Scholar
  6. 6.
    Finsterer J, Mancuso M, Pareyson D, Burgunder JM, Klopstock T (2017) Mitochondrial disorders of the retinal ganglion cells and the optic nerve. Mitochondrion.

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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