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Identification of novel NDUFA3 variants in a patient with mitochondrial disorders.

Pediatric research - 1 Jun 2026

Sun Yu, Wei Xiujuan, Xiao Bing, Luo Yongfeng, Wang Ya, Liu Ripeng, Zhan Yongkun, Ye Xiantao, Cai Xudong, Xu Shiyi, Lyu Jianxin, Fang Hezhi, Yu Yongguo

Abstract excerpt

BACKGROUND: Mitochondrial respiratory chain (RC) dysfunction constitutes the biochemical defect underlining a group of heterogenous clinical presentations known as mitochondrial disorders. NDUFA3 is an accessory subunit of Complex I (CI) and has recently been associated with Leigh Syndrome. However, the genetic evidence is limited and no functional analysis is available on the molecular mechanism. METHODS: We...

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Identifiers

PMID: 41038977
DOI: 10.1038/s41390-025-04403-4

Genes

NDUFA3
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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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Identification of novel NDUFA3 variants in a patient with mitochondrial disorders.PMID 41038977Read ↗

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Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.Semantic proximity Read ↗

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Fulminant neurological deterioration in a neonate with Leigh syndrome due to a maternally transmitted missense mutation in the mitochondrial ND3 gene.Semantic proximity Read ↗

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