Leigh Syndrome Due to mtDNA Pathogenic Variants

Abstract Leigh syndrome is a devastating neurodegenerative disease, typically manifesting in infancy or early childhood. Hallmarks of the disease are symmetrical lesions in the basal ganglia or brain stem on MRI, and a clinical course with rapid deterioration of cognitive and motor functions. It is...

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Bibliographic Details
Main Authors: Cristina Pereira, Carolina Fischinger de Souza, Leonardo Vedolin, Filippo Vairo, Cláudia Lorea, Cláudia Sobreira, Célia Nogueira, Laura Vilarinho
Format: Article
Language:English
Published: SciELO 2019-08-01
Series:Journal of Inborn Errors of Metabolism and Screening
Subjects:
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942019000100306&tlng=en