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A Novel Variation in the Mitochondrial Complex I Assembly Factor NDUFAF5 Causes Isolated Bilateral Striatal Necrosis in Childhood

Background: Bilateral striatal necrosis (BSN) is characterized by symmetrical degeneration, predominantly of the caudate and putamen nucleus, in the basal ganglia. It is associated with numerous acquired and hereditary neuro-developmental and motor dysfunction-related pathological conditions. BSN re...

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Detalles Bibliográficos
Autores principales: Bi, Hongyan, Guo, Hui, Wang, Qianfei, Zhang, Xiao, Zhao, Yaming, Li, Jimei, Zhao, Weiqin, Tuo, Houzhen, Zhang, Yongbo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8223072/
https://www.ncbi.nlm.nih.gov/pubmed/34177781
http://dx.doi.org/10.3389/fneur.2021.675616