The m.3243A >G mutation in the tRNA Leu (UUR) gene (MT-TL1) of the mitochondrial DNA is the most widely seen pathogenic mtDNA mutation which has major phenotypic variations. The clinical phenotype involves various organs such as the brain and nerves, skeletal muscles, heart, endocrine system, gastrointestinal tract, and skin. Some phenotypes conform to well established syndromes, while most of the symptoms appear individually or concomitant to other syndromes, making identification difficult. Furthermore, some progress has been made on cardiac manifestations as well as complications during pregnancy and perinatal period. This article provides a systematic review of the non-syndromic phenotypes and latest developments in m.3243A>G mutation.
基金：
Shanghai Natural
Science Foundation (19ZR1449200) and National
Natural Science Foundation of China (81971181),
the Medical and Engineering Crossover Fund of SJTU
(YG2017MS67).
第一作者机构：[1]Department of Neurology, Tongren Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China
通讯作者：
通讯机构：[1]Department of Neurology, Tongren Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China[*1]Department of Neurology, Tongren Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
推荐引用方式(GB/T 7714)：
Shen Xiya,Du Ailian.The non-syndromic clinical spectrums of mtDNA 3243A > G mutation[J].NEUROSCIENCES.2021,26(2):128-133.doi:10.17712/nsj.2021.2.20200145.
APA：
Shen, Xiya&Du, Ailian.(2021).The non-syndromic clinical spectrums of mtDNA 3243A > G mutation.NEUROSCIENCES,26,(2)
MLA：
Shen, Xiya,et al."The non-syndromic clinical spectrums of mtDNA 3243A > G mutation".NEUROSCIENCES 26..2(2021):128-133
