Author:
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.
Subject
Genetics (clinical),Genetics,Molecular Medicine
Cited by
4 articles.
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