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Ischemic optic neuropathy as first presentation in patient with m.3243 A > G MELAS classic mutation

BACKGROUND: Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a systemic disorder in which multi-organ dysfunction may occur from mitochondrial metabolism failure. Maternally inherited mutations in the MT-TL1 gene are the most frequent causes for this dis...

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Detalles Bibliográficos
Autores principales: Scarcella, Simone, Dell’Arti, Laura, Gagliardi, Delia, Magri, Francesca, Govoni, Alessandra, Velardo, Daniele, Mainetti, Claudia, Minorini, Valeria, Ronchi, Dario, Piga, Daniela, Comi, Giacomo Pietro, Corti, Stefania, Meneri, Megi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10123965/
https://www.ncbi.nlm.nih.gov/pubmed/37095452
http://dx.doi.org/10.1186/s12883-023-03198-3