Genetic analysis and multimodal imaging confirm m.12148 T > C mitochondrial variant pathogenicity leading to multisystem dysfunction. - Belle K; Kreymerman A; Young JL; Vadgama N; Ji MH; Randhawa S; Caicedo J; Wong M; Muscat SP; Gifford CA; Lee RT; Nasir J; et al. (Molecular genetics and metabolism, 2025)