Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant - Blickhäuser, Beryll; Stenton, Sarah L; Neuhofer, Christiane M; Floride, Elisa; Nesbitt, Victoria; Fratter, Carl; Koch, Johannes; Kauffmann, Birgit; Catarino, Claudia; Schlieben, Lea Dewi; Kopajtich, Robert; Carelli, Valerio; et al. (Brain (London, England : 1878), 2024)
Keywords: Adolescent; Adult; Child; Child, Preschool; DNA, Mitochondrial - genetics; Electron Transport Complex I - genetics; Exome Sequencing; Female; Humans; Leigh Disease - genetics; Male; Mutation; NADH Dehydrogenase - genetics; Optic Atrophy, Hereditary, Leber - genetics; Young Adult; Leigh syndrome spectrum (LSS); digenic inheritance; Leber hereditary optic neuropathy (LHON); mitochondrial complex I (CI)