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

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

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