PT  - JOURNAL ARTICLE
AU  - Xiya Shen
AU  - Ailian Du
TI  - The non-syndromic clinical spectrums of mtDNA 3243A>G mutation
AID  - 10.17712/nsj.2021.2.20200145
DP  - 2021 Apr 01
TA  - Neurosciences Journal
PG  - 128--133
VI  - 26
IP  - 2
4099  - http://nsj.org.sa/content/26/2/128.short
4100  - http://nsj.org.sa/content/26/2/128.full
SO  - Neurosciences (Riyadh)2021 Apr 01; 26
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.