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Letter to the Editor| Volume 41, ISSUE 8, P741, September 2019

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Exclusive affection of the brain in m.4450G>A carriers rather suggests Leigh syndrome than MELAS

      With interest we read the article by Kuwajima et al. about a 12yo female with MELAS due to the mtDNA variant m.4450G>A in the tRNA(Met) gene [
      • Kuwajima M.
      • Goto M.
      • Kurane K.
      • Shimbo H.
      • Omika N.
      • Jimbo E.F.
      • et al.
      MELAS syndrome with m.4450 G > A mutation in mitochondrial tRNA(Met) gene.
      ]. The study raises concerns.

      Keywords

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      References

        • Kuwajima M.
        • Goto M.
        • Kurane K.
        • Shimbo H.
        • Omika N.
        • Jimbo E.F.
        • et al.
        MELAS syndrome with m.4450 G > A mutation in mitochondrial tRNA(Met) gene.
        Brain Dev. 2019; (pii: S0387-7604(18)30597-7)
        • El-Hattab A.W.
        • Almannai M.
        • Scaglia F.
        MELAS. 2001 Feb 27 [updated 2018 Nov 29].
        in: Adam M.P. Ardinger H.H. Pagon R.A. Wallace S.E. Bean L.J.H. Stephens K. Amemiya A. GeneReviews® [Internet]. University of Washington, Seattle, Seattle (WA)1993-2019 (Available from http://www.ncbi.nlm.nih.gov/books/NBK1233/)
        • Morin C.
        • Dubé J.
        • Robinson B.H.
        • Lacroix J.
        • Michaud J.
        • De Braekeleer M.
        • et al.
        Stroke-like episodes in autosomal recessive cytochrome oxidase deficiency.
        Ann Neurol. 1999; 45: 389-392
        • Kim J.H.
        • Lim M.K.
        • Jeon T.Y.
        • Rha J.H.
        • Eo H.
        • Yoo S.Y.
        • et al.
        Diffusion and perfusion characteristics of MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode) in thirteen patients.
        Korean J Radiol. 2011; 12: 15-24
        • Finsterer J.
        Toxicity of antiepileptic drugs to mitochondria.
        Handb Exp Pharmacol. 2017; 240: 473-488