Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency
NDUFAF8 致病性双等位基因突变导致 Leigh 综合征,并伴有单独的复合物 I 缺乏症
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2019.12.001
Charlotte L Alston, Mike T Veling, Juliana Heidler, Lucie S Taylor, Joseph T Alaimo, Andrew Y Sung, Langping He, Sila Hopton, Alexander Broomfield, Julija Pavaine, Jullianne Diaz, Eyby Leon, Philipp Wolf, Robert McFarland, Holger Prokisch, Saskia B Wortmann, Penelope E Bonnen, Ilka Wittig, David J P