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Leigh Syndrome Due to mtDNA Pathogenic Variants

Pereira,Cristina; Souza,Carolina Fischinger de; Vedolin,Leonardo; Vairo,Filippo; Lorea,Cláudia; Sobreira,Cláudia; Nogueira,Célia; Vilarinho,Laura

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 genetically heterogeneous, causative mutations have been disclosed in mitochondrial DNA and nuclear genes involved...

Date: 2019   |   Origin: Oasisbr
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