biostudies-literatureUnknown144(3)Belle KNIH National Institute of General Medical SciencesNational Eye InstituteNEI NIH HHSResearch to Prevent BlindnessNHLBI NIH HHSUnited Mitochondrial Disease FoundationWellcome Trust Centre for Mitochondrial ResearchNational Heart Lung and Blood InstituteWellcome TrustNIH HHSMolecular genetics and metabolism109049https://www.ebi.ac.uk/biostudies/studies/S-EPMC12102776biostudies-literatureGenetic analysis and multimodal imaging confirm m.12148 T > C mitochondrial variant pathogenicity leading to multisystem dysfunction.PMC12102776P01 HL141084R33 HL167258R01 HL130840S10 OD030264P30EY026877208148203105/Z/16/ZP30 EY026877Nasir JKoeberl DWood EHKarakikes ISchaefer AMYoung JLRandhawa SBelle KCaicedo JMuscat SPTaylor RWLee RTMercola MWong MKreymerman AEnns GMVadgama NGifford CAJi MHfalseGenetic analysis and multimodal imaging confirm m.12148 T > C mitochondrial variant pathogenicity leading to multisystem dysfunction.2025-01-01T00:00:00Z2025 Mar2026-07-16T23:09:18.495Z2026-07-12T03:11:08.675ZS-EPMC121027763998624010.1016/j.ymgme.2025.109049