Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution

Publication date: Available online 13 October 2020Source: Molecular Genetics and MetabolismAuthor(s): Frederic Tort, Estibaliz Barredo, Ranjani Parthasarathy, Olatz Ugarteburu, Xenia Ferrer-Cortès, Judit García-Villoria, Laura Gort, Adrián González-Quintana, Miguel A. Martín, Erika Fernández-Vizarra, Massimo Zeviani, Antonia Ribes

Source: Molecular Genetics and Metabolism - October 14, 2020 Category: Genetics & Stem Cells Source Type: research