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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Detalles Bibliográficos
Autores principales: Kim, Jaewon, Lee, Jaewoong, Jang, Dae-Hyun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9157758/
https://www.ncbi.nlm.nih.gov/pubmed/35664867
http://dx.doi.org/10.3389/fped.2022.812408

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9157758/
https://www.ncbi.nlm.nih.gov/pubmed/35664867
http://dx.doi.org/10.3389/fped.2022.812408

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