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Dominant Epidemiology Multiple families & sporadic cases with different ethnic origins 15% of Italian PEO with multiple mtDNA deletions TWNK mutations common: PEO onset after 4th decade Genetics Gene mutations Missense most common Locations Cluster in region of protein involved in subunit interactions Amino acids, General 303 to 508 Common mutations Ala504Thr

10.1038/s41401-022-00935-1 96 NamY.-W.OrfaliR.LiuT.YuK.CuiM.WulffH.et al (2017)

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10.1210/me.2014-1062 118 PavelcovaK.BohataJ.PavlikovaM.BubenikovaE.PavelkaK.StiburkovaB

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Vitamin C helps keep the Glutathione in an absorbable form