QR-kod

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...

Full beskrivning

Sparad:
Huvudupphov: Cristina Pereira, Carolina Fischinger de Souza, Leonardo Vedolin, Filippo Vairo, Cláudia Lorea, Cláudia Sobreira, Célia Nogueira, Laura Vilarinho
Materialtyp: Artigo
Språk:Inglês
Utgiven: Latin American Society Inborn Errors and Neonatal Screening (SLEIMPN); Instituto Genética para Todos (IGPT) 2019-08-01
Serie:Journal of Inborn Errors of Metabolism and Screening
Ämnen:
leigh syndrome
mitochondrial genome
complex I
complex IV
MT-ND3
MT-CO1
Länkar:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942019000100306&tlng=en
Taggar: Lägg till en tagg
Inga taggar, Lägg till första taggen!

Liknande verk