RT Journal Article SR Electronic T1 The non-syndromic clinical spectrums of mtDNA 3243A>G mutation JF Neurosciences Journal JO Neurosciences (Riyadh) FD Prince Sultan Military Medical City SP 128 OP 133 DO 10.17712/nsj.2021.2.20200145 VO 26 IS 2 A1 Xiya Shen A1 Ailian Du YR 2021 UL http://nsj.org.sa/content/26/2/128.abstract AB 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.