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 [
[1]
]. The study raises concerns.Keywords
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References
- MELAS syndrome with m.4450 G > A mutation in mitochondrial tRNA(Met) gene.Brain Dev. 2019; (pii: S0387-7604(18)30597-7)
- 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/)
- Stroke-like episodes in autosomal recessive cytochrome oxidase deficiency.Ann Neurol. 1999; 45: 389-392
- 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
- Toxicity of antiepileptic drugs to mitochondria.Handb Exp Pharmacol. 2017; 240: 473-488
Article info
Publication history
Published online: April 02, 2019
Accepted:
March 25,
2019
Received:
February 13,
2019
Identification
Copyright
© 2019 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
