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

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Source: Clinical Genetics - May 7, 2020 Category: Genetics & Stem Cells Authors: Yatsuka Y, Kishita Y, Formosa LE, Shimura M, Nozaki F, Fujii T, Nitta KR, Ohtake A, Murayama K, Ryan MT, Okazaki Y Tags: Clin Genet Source Type: research