Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy.

Human mutation

Rius R, Bennett NK, Bhattacharya K, Riley LG, Yüksel Z, Formosa LE, Compton AG, Dale RC, Cowley MJ, Gayevskiy V, Al Tala SM, Almehery AA, Ryan MT, Thorburn DR, Nakamura K, Christodoulou J. Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy. Hum Mutat. 2022 Dec; 43(12):1970-1978.

2022
https://researcherprofiles.org/profile/417420455
36030551

Rius R, Bennett NK, Bhattacharya K, Riley LG, Yüksel Z, Formosa LE, Compton AG, Dale RC, Cowley MJ, Gayevskiy V, Al Tala SM, Almehery AA, Ryan MT, Thorburn DR, Nakamura K, Christodoulou J