Sensitive quantification of m.3243A>G mutational proportion in non-retinal tissues and its relationship with visual symptoms.
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DOI: 10.1093/hmg/ddab289
Abstract: The m.3243A>G mutation in the mitochondrial genome commonly causes retinal degeneration in patients with maternally inherited diabetes and deafness (MIDD) and mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). Like other mitochondrial mutations, m.3243A>G is… read more here.
Keywords: sensitive quantification; quantification 3243a; visual symptoms; 3243a mutational ... See more keywords