Use of heteroplasmy rates for determining MELAS phenotype: a reply

in European Journal of Endocrinology
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  • 1 Department of Pediatrics, Gangnam Severance Hospital, Severance Children’s Hospital, Yonsei University College of Medicine, Seoul, Korea

Correspondence should be addressed to Y-M Lee; Email: ymleemd@yuhs.ac
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     European Society of Endocrinology

Sept 2018 onwards Past Year Past 30 Days
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  • 1

    Finsterer J The MELAS phenotype may not only be determined by heteroplasmy of causative mtDNA variants. European Journal of Endocrinology 184 L5L6. (https://doi.org/10.1530/EJE-20-1248)

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    Grady JP, Pickett SJ, Ng YS, Alston CL, Blakely EL, Hardy SA, Feeney CL, Bright AA, Schaefer AM & Gorman GS et al. mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease. EMBO Molecular Medicine 2018 10 e8262. (https://doi.org/10.15252/emmm.201708262)

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  • 3

    Burgstaller JP, Kolbe T, Havlicek V, Hembach S, Poulton J, Pialek J, Steinborn R, Rulicke T, Brem G & Jones NS et al. Large-scale genetic analysis reveals mammalian mtDNA heteroplasmy dynamics and variance increase through lifetimes and generations. Nature Communications 2018 9 2488. (https://doi.org/10.1038/s41467-018-04797-2)

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    Tarnopolsky MA The mitochondrial cocktail: rationale for combined nutraceutical therapy in mitochondrial cytopathies. Advanced Drug Delivery Reviews 2008 60 15611567. (https://doi.org/10.1016/j.addr.2008.05.001)

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  • 5

    Sproule DM & Kaufmann P Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome. Annals of the New York Academy of Sciences 2008 1142 133158. (https://doi.org/10.1196/annals.1444.011)

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