Clinical Diagnosis and Treatment of Leigh Syndrome Based on <i>SURF1</i>: Genotype and Phenotype

Clinical Diagnosis and Treatment of Leigh Syndrome Based on <i>SURF1</i>: 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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Bibliographic Details
Main Authors: Inn-Chi Lee, Kuo-Liang Chiang
Format: Article
Language:English
Published: MDPI AG 2021-12-01
Series:Antioxidants
Subjects:
mitochondrial disorders
complex IV assembly
Leigh syndrome
Online Access:https://www.mdpi.com/2076-3921/10/12/1950

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