Diagnosing MELAS requires not only an mtDNA variant but also an appropriate phenotype

  • Josef FinstererEmail author
  • Sinda Zarrouk-Mahjoub
Letter to the Editor


Author’s contribution

JF contributed to design, literature search, discussion, and first draft, and SZ-M involved in literature search, discussion, and critical comments.

Compliance with ethical standards

Conflict of interest

There are no conflicts of interest.

Statement of human rights

All procedures performed in studies involving human participants were in accordance with the ethical Standards with the national Research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Statement on the welfare of animals

No animals were used in this study.

Informed consent

Individual consent was obtained from all individual participants included in this study.


  1. 1.
    Ozawa K, Mochizuki K, Manabe Y, Yoshikura N, Shimohata T, Nishino I, Goto YI (2019) Retinal dystrophy associated with a single-base deletion mutation in mitochondrial DNA 3271 in patient with MELAS syndrome. Doc Ophthalmol. Google Scholar
  2. 2.
    El-Hattab AW, Almannai M, Scaglia F, MELAS (2001) (updated 2018 Nov 29) In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A (eds) GeneReviews®. University of Washington, Seattle, WA, 1993–2019.
  3. 3.
    Finsterer J (2009) Management of mitochondrial stroke-like-episodes. Eur J Neurol 16:1178–1184CrossRefGoogle Scholar
  4. 4.
    Kim JT, Lee YJ, Lee YM, Kang HC, Lee JS, Kim HD (2009) Clinical characteristics of patients with non-specific and non-categorized mitochondrial diseases. Acta Paediatr 98:1825–1829CrossRefGoogle Scholar
  5. 5.
    Finsterer J, Zarrouk-Mahjoub S (2016) Mitochondrial vasculopathy. World J Cardiol 8:333–339CrossRefGoogle Scholar

Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

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

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