Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I
NDUFC2 中的双等位基因致病变异导致早发性 Leigh 综合征和复合物 I 的生物合成停滞
期刊:EMBO Molecular Medicine
影响因子:9
doi:10.15252/emmm.202012619
Ahmad Alahmad, Alessia Nasca, Juliana Heidler, Kyle Thompson, Monika Oláhová, Andrea Legati, Eleonora Lamantea, Jana Meisterknecht, Manuela Spagnolo, Langping He, Seham Alameer, Fahad Hakami, Abeer Almehdar, Anna Ardissone, Charlotte L Alston, Robert McFarland, Ilka Wittig #, Daniele Ghezzi #, Rober