A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction

Liesbeth T.M. Wintjes, Maina Kava, Frans A. van den Brandt, Mariël A.M. van den Brand, Oksana Lapina, Yngve T. Bliksrud, Mari A. Kulseth, Silja S. Amundsen, Terje R. Selberg, Marion Ybema-Antoine, Omar A.Z. Tutakhel, Lawrence Greed, David R. Thorburn, Trine Tangeraas, Shanti Balasubramaniam, Richard J.T. Rodenburg

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Medicine & Life Sciences