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- Title
Case Report: Optic Atrophy and Nephropathy With m.13513G>A/MT-ND5 mtDNA Pathogenic Variant.
- Authors
Barone, Valentina; La Morgia, Chiara; Caporali, Leonardo; Fiorini, Claudio; Carbonelli, Michele; Gramegna, Laura Ludovica; Bartiromo, Fiorina; Tonon, Caterina; Morandi, Luca; Liguori, Rocco; Petrini, Aurelia; Brugnano, Rachele; Del Sordo, Rachele; Covarelli, Carla; Morroni, Manrico; Lodi, Raffaele; Carelli, Valerio
- Abstract
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.
- Publication
Frontiers in Genetics, 2022, p1
- ISSN
1664-8021
- Publication type
Article
- DOI
10.3389/fgene.2022.887696