Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease

por Friederich, Marisa W., Elias, Abdallah F., Kuster, Alice, Laugwitz, Lucia, Larson, Austin A., Landry, Aaron P., Ellwood‐Digel, Logan, Mirsky, David M., Dimmock, David, Haven, Jaclyn, Jiang, Hua, MacLean, Kenneth N., Styren, Katie, Schoof, Jonathan, Goujon, Louise, Lefrancois, Thomas, Friederich, Maike, Coughlin, Curtis R., Banerjee, Ruma, Haack, Tobias B., Van Hove, Johan L. K.
Publicado 2020