# Identification of respiratory chain complex I deficiency due to NDUFA5 variants as a novel cause of infantile fatal disease

**Authors:** Yang Wang, Xi Yang, Xue Yan, Yumin Zhu, Xue Xia, Ting Li, Yi Liao, Bingkun Lei, Jingmin Yang, Deyuan Li

PMC · DOI: 10.1016/j.gendis.2025.101920 · Genes & Diseases · 2025-11-06

## Full-text entities

- **Genes:** NDUFA5 (NADH:ubiquinone oxidoreductase subunit A5) [NCBI Gene 4698] {aka B13, CI-13KD-B, CI-13kB, NUFM, UQOR13}
- **Diseases:** respiratory chain complex I deficiency (MESH:D028361)

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Source: https://tomesphere.com/paper/PMC12995688