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Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.
J Clin Invest. 2021 Mar 15;131(6):e138267. doi: 10.1172/JCI138267.
J Clin Invest. 2021.
PMID: 33465056
Free PMC article.
Three rare pathogenic mtDNA substitutions in LHON patients with low heteroplasmy.
Krylova TD, Sheremet NL, Tabakov VY, Lyamzaev KG, Itkis YS, Tsygankova PG, Andreeva NA, Shmelkova MS, Nevinitsyna TA, Kadyshev VV, Zakharova EY.
Krylova TD, et al. Among authors: shmelkova ms.
Mitochondrion. 2020 Jan;50:139-144. doi: 10.1016/j.mito.2019.10.002. Epub 2019 Oct 26.
Mitochondrion. 2020.
PMID: 31669237
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