A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families
ATP5PO 中的纯合剪接变体会破坏线粒体复合体 V 的功能,并在两个不相关的家庭中引起 Leigh 综合征
期刊:Journal of Inherited Metabolic Disease
影响因子:4.2
doi:10.1002/jimd.12526
Mythily Ganapathi, Gaelle Friocourt, Naig Gueguen, Marisa W Friederich, Gerald Le Gac, Volkan Okur, Nadège Loaëc, Thomas Ludwig, Chandran Ka, Kurenai Tanji, Pascale Marcorelles, Evangelos Theodorou, Angela Lignelli-Dipple, Cécile Voisset, Melissa A Walker, Lauren C Briere, Amélie Bourhis, Marc Blond