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 [
]. The study raises concerns.
- 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)
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- 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/)
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Published online: April 02, 2019
Accepted: March 25, 2019
Received: February 13, 2019
© 2019 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.