Characterization of a UQCRC1 variant in a patient with progressive weakness, pain and sleep issues reveals a functional mitochondrial defect restored by mitochondrial transplantation
对一名出现进行性虚弱、疼痛和睡眠障碍的患者的UQCRC1变异体进行表征，揭示了一种功能性线粒体缺陷，该缺陷可通过线粒体移植得到修复。
期刊:Molecular Genetics and Metabolism Reports
影响因子:1.9
doi:10.1016/j.ymgmr.2026.101302
Piroli, Gerardo G; Myers, Rebecca; Holloway, Lynda; Hayek, Andrew; Linebaugh, Ellen; Jones, Julie R; Skinner, Cindy; Skinner, Steven A; Frizzell, Norma; Steet, Richard
