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

Yatsuka Y, Kishita Y, Formosa LE, Shimura M, Nozaki F, Fujii T, Nitta KR, Ohtake A, Murayama K, Ryan MT, Okazaki Y
Clin Genet. 2020 Aug;98(2):155-165. doi: 10.1111/cge.13773. Epub 2020 May 25. PubMed Article

Plasmids from Article

No plasmids are currently publicly available from Addgene for this article.