[Interpretation of clinical and laboratory interpretation of mitochondrial messenger RNA variants]

Zhonghua Er Ke Za Zhi. 2021 Dec 2;59(12):1032-1037. doi: 10.3760/cma.j.cn112140-20210611-00498.

[Article in Chinese]

¹ Department of Pediatrics, Xiangya Hospital, Central South University, Changsha 410008, China.
² Department of Molecular and Human Genetics, Baylor College of Medicine, Texas 77030, USA.
³ Department of Neurology, Chongqing Children's Hospital, Chongqing 400014, China.
⁴ Department of Neurology, Children's Hospital of Fudan University, Shanghai 200433, China.
⁵ Department of Neurology, Beijing Children's Hospital, Beijing 100045, China.
⁶ Department of Pediatrics, Fujian Medical University Union Hospital, Fuzhou 350005, China.
⁷ Department of Nephrology, Children's Hospital of Nanjing Medical University,Nanjing 210008, China.
⁸ Department of Neurology, Shenzhen Children's Hospital, Shenzhen 518038, China.
⁹ Department of Pediatrics, First Affiliated Hospital of Guangxi Medical University, Nanning 530027, China.
¹⁰ Department of Neurology, Wuhan Children's Hospital, Wuhan 430016, China.

Abstract

线粒体疾病受线粒体DNA和核基因组的双重调控，对线粒体DNA的变异解读一直充满挑战，本文将美国贝勒医学院临床医学遗传诊断室于2020年发表的线粒体信使RNA（mRNA）变异分类标准进行解读，以期为我国临床医生提供线粒体mRNA变异解读的最新依据。.