Article
Sensitive quantification of m.3243A>G mutational proportion in non-retinal tissues and its relationship with visual symptoms.
Human molecular genetics - 3 Mar 2022
Mullin Nathaniel K, Anfinson Kristin R, Riker Megan J, Wieland Kelsey L, Tatro Nicole J, Scheetz Todd E, Mullins Robert F, Stone Edwin M, Tucker Budd A
Abstract excerpt
The m.3243A>G mutation in the mitochondrial genome commonly causes retinal degeneration in patients with maternally inherited diabetes and deafness and mitochondrial encephalopathy, lactic acidosis and stroke-like episodes. Like other mitochondrial mutations, m.3243A>G is inherited from the mother with a variable proportion of wild type and mutant mitochondrial genomes in different cells. The mechanism by which...
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