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

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...

詳細記述

書誌詳細
主要な著者: Firas Abu Hanna, Yoav Zehavi, Eran Cohen-Barak, Morad Khayat, Nasim Warwar, Roni Shreter, Richard J. Rodenburg, Ronen Spiegel
フォーマット: 論文
言語:English
出版事項: BMC 2024-02-01
シリーズ:Orphanet Journal of Rare Diseases
主題:
Mitochondrial disease
NDUFAF2 gene
Leigh syndrome
Oxidative phosphorylation
Optic neuropathy
オンライン･アクセス:https://doi.org/10.1186/s13023-024-03094-0

インターネット

https://doi.org/10.1186/s13023-024-03094-0

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