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Article

A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency.

Clinical genetics - 1 Aug 2020

Yatsuka Yukiko, Kishita Yoshihito, Formosa Luke E, Shimura Masaru, Nozaki Fumihito, Fujii Tatsuya, Nitta Kazuhiro R, Ohtake Akira, Murayama Kei, Ryan Michael T, Okazaki Yasushi

Abstract excerpt

Mitochondrial complex I deficiency is caused by pathogenic variants in mitochondrial and nuclear genes associated with complex I structure and assembly. We report the case of a patient with　NDUFA8-related mitochondrial disease. The patient presented with developmental delay, microcephaly, and epilepsy. His fibroblasts showed apparent biochemical defects in mitochondrial complex I. Whole-exome sequencing revealed...

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PMID: 32385911
DOI: 10.1111/cge.13773

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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