Case Report: Optic Atrophy and Nephropathy With m.13513G>A/MT-ND5 mtDNA Pathogenic Variant

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 man...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9204033/
https://www.ncbi.nlm.nih.gov/pubmed/35719398
http://dx.doi.org/10.3389/fgene.2022.887696

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