Isolated complex I deficiency represents the most common mitochondrial respiratory chain defect involved in mitochondrial disorders. Among these, the mitochondrial DNA (mtDNA) m.13513G>A pathogenic variant in the NADH dehydrogenase 5 subunit gene (MT-ND5) has been associated with heterogenous manifestations, including phenotypic overlaps of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes, Leigh syndrome, and Leber's hereditary optic neuropathy (LHON). Interestingly, this specific mutation has been recently described in patients with adult-onset nephropathy. We, here, report the unique combination of LHON, nephropathy, sensorineural deafness, and subcortical and cerebellar atrophy in association with the m.13513G>A variant.
Keywords: LHON; MT-ND5; Mitochondrial nephropathy; cerebellum; m.13513G>A mutation.
Copyright © 2022 Barone, La Morgia, Caporali, Fiorini, Carbonelli, Gramegna, Bartiromo, Tonon, Morandi, Liguori, Petrini, Brugnano, Del Sordo, Covarelli, Morroni, Lodi and Carelli.