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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| Main Authors: | , |
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| Format: | Book |
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MDPI AG,
2021-12-01T00:00:00Z.
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |