NDUFAF6-Related Leigh Syndrome Caused by Rare Pathogenic Variants: A Case Report and the Focused Review of Literature

NDUFAF6-Related Leigh Syndrome Caused by Rare Pathogenic Variants: A Case Report and the Focused Review of Literature

Leigh syndrome is a neurodegenerative disorder that presents with fluctuation and stepwise deterioration, such as neurodevelopmental delay and regression, dysarthria, dysphagia, hypotonia, dystonia, tremor, spasticity, epilepsy, and respiratory problems. The syndrome characteristically presents symm...

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Bibliographic Details
Main Authors: Jaewon Kim, Jaewoong Lee, Dae-Hyun Jang
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-05-01
Series:Frontiers in Pediatrics
Subjects:
Leigh syndrome
mitochondrial disease
NDUFAF6
complex I deficiency
neurodegenerative disorder
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2022.812408/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2022.812408/full

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