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

por Wintjes, Liesbeth T. M., Kava, Maina, van den Brandt, Frans A., van den Brand, Mariël A. M., Lapina, Oksana, Bliksrud, Yngve T., Kulseth, Mari A., Amundsen, Silja S., Selberg, Terje R., Ybema‐Antoine, Marion, Tutakhel, Omar A. Z., Greed, Lawrence, Thorburn, David R., Tangeraas, Trine, Balasubramaniam, Shanti, Rodenburg, Richard J. T.
Publicado 2020