Article
The non-syndromic clinical spectrums of mtDNA 3243A>G mutation.
Neurosciences (Riyadh, Saudi Arabia) - 1 Apr 2021
Shen Xiya, Du Ailian
Abstract excerpt
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...
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