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

Abstract Background 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 NDUFAF2, encoding the nuclear assembly...

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Egile Nagusiak:	Firas Abu Hanna, Yoav Zehavi, Eran Cohen-Barak, Morad Khayat, Nasim Warwar, Roni Shreter, Richard J. Rodenburg, Ronen Spiegel
Formatua:	Artigo
Hizkuntza:	Inglês
Argitaratua:	BMC 2024-02-01
Saila:	Orphanet Journal of Rare Diseases
Gaiak:	Mitochondrial disease NDUFAF2 gene Leigh syndrome Oxidative phosphorylation Optic neuropathy
Sarrera elektronikoa:	https://doi.org/10.1186/s13023-024-03094-0
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