Biallelic NDUFA9 variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiency
NDUFA9 双等位基因变异会导致进行性神经发育障碍,其主要特征是肌张力障碍和线粒体复合物 I 缺乏。
期刊:Brain Communications
影响因子:4.5
doi:10.1093/braincomms/fcaf369
Magrinelli, Francesca; Taylor, Lucie S; Sedighzadeh, Sahar; Moualek, Dalila; Severino, Mariasavina; Grba, Daniel N; Alston, Charlotte L; Champion, Michael; Tavasoli, Ali Reza; Lascelles, Karine; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; Fateh, Sahand Tehrani; Kordi-Tamandani, Mohammad; Khajeh, Ali; Yaghoubi, Saeedeh; Dominik, Natalia; Babaei, Meisam; Javadzadeh, Mohsen; Varaghchi, Jamileh Rezazadeh; Miryounesi, Mohammad; Ghayoor Karimiani, Ehsan; Tazir, Meriem; Ali Pacha, Lamia; Bhatia, Kailash P; Taylor, Robert W; Houlden, Henry; Maroofian, Reza