Recessive PPTC7 deficiency triggers excessive mitophagy to cause a severe inborn error of metabolism with hypomyelinating leukodystrophy.
隐性 PPTC7 缺陷会引发过度线粒体自噬，从而导致严重的先天性代谢缺陷，并伴有髓鞘形成不足的脑白质营养不良。
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doi:10.21203/rs.3.rs-8815446/v1
Kozul Keri-Lyn, AlAsmari Ali, Alharby Essa, Zakzouk Reem, Yan Youmian, Mushiba Aziza, Alhamad Anwar, Harrelson Emily, Ayach Maya, Cho Kevin, Zahid Heba, Vitorino Francisca De Luna, Searfoss Richard, Liu Xingyu, Saleh Mohammed A, Latif Muhammad, Wei Lianjie, Aldawood Ali, Alsuhaibani Laila, Bafail Mohammed Abdulhafith, Menezes Thiago, Samman Manar, Pletcher Hannah, Sandokji Ibrahim, Borhan Walaa, Lochetto Tessa, Alamri Abrar, Mudayfin Wedad, Syed Mazin, Shriver Leah, Garcia Benjamin, Faqeih Eissa, Patti Gary, Niemi Natalie, Almontashiri Naif
