m.11778G>A
· 3 retained evidence mentions
Source-grounded findings
Supporting evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | m.11778G>A | “The series highlights both adolescent-and adult-disease onset, with most patients carrying the m.11778G>A mutation, consistent with global prevalence patterns.” | 0.95 | hgvs_regex_v1 |
| variant | m.11778G>A | “BACKGROUND: LHON is a rare mitochondrial disease causing bilateral vision loss, most commonly due to the m.11778G>A mutation. rAAV2/2-ND4 gene therapy is a potential disease-modifying treatment.” | 0.95 | hgvs_regex_v1 |
| variant | m.11778G>A | “LHON is associated with mutations in mitochondrial DNA (mtDNA), notably m.11778G>A, m.3460G>A, and m.14484T>C, affecting complex I subunits.” | 0.95 | hgvs_regex_v1 |