Clinical Diagnosis and Treatment of Leigh Syndrome Based on SURF1: Genotype and Phenotype

SURF1 encodes the assembly factor for maintaining the antioxidant of cytochrome c oxidase (COX) stability in the human electron respiratory chain. Mutations in SURF1 can cause Leigh syndrome (LS), a subacute neurodegenerative encephalopathy, characterized by early onset (infancy), grave prognosis, a...

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Detalles Bibliográficos
Autores principales: Lee, Inn-Chi, Chiang, Kuo-Liang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8750222/
https://www.ncbi.nlm.nih.gov/pubmed/34943053
http://dx.doi.org/10.3390/antiox10121950

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8750222/
https://www.ncbi.nlm.nih.gov/pubmed/34943053
http://dx.doi.org/10.3390/antiox10121950

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