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

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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Bibliographic Details
Main Authors: Hongyan Bi, Hui Guo, Qianfei Wang, Xiao Zhang, Yaming Zhao, Jimei Li, Weiqin Zhao, Houzhen Tuo, Yongbo Zhang
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-06-01
Series:Frontiers in Neurology
Subjects:
bilateral striatal necrosis
NDUFAF5
mitochondrial complex I deficiency
whole-exome sequencing
novel variation
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2021.675616/full

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https://www.frontiersin.org/articles/10.3389/fneur.2021.675616/full

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