Article

Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethality

2023-10-23

Abstract excerpt

<title>Abstract</title> <p><bold>Background </bold>Congenital disorders of the mitochondrial respiratory chain are a heterogeneous group of inborn errors of metabolism. Among them, NADH:ubiquinone oxidoreductase (complex I, CI) deficiency is the most common. Biallelic pathogenic variants in <italic>NDUFAF2</italic>, encoding the nuclear assembly CI factor NDUFAF2, were initially reported to cause progressive ence...

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Literature Corpus work: 6a514511-2c4f-5534-9a90-3b38a91c8cd5
DOI: 10.21203/rs.3.rs-3411446/v1

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