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A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency.
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.
Affiliation
  • Yatsuka Y; Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.
  • Kishita Y; Diagnostics and Therapeutics of Intractable Diseases, Graduate School of Medicine, Juntendo University, Tokyo, Japan.
  • Formosa LE; Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.
  • Shimura M; Diagnostics and Therapeutics of Intractable Diseases, Graduate School of Medicine, Juntendo University, Tokyo, Japan.
  • Nozaki F; Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Clayton, Victoria, Australia.
  • Fujii T; Department of Metabolism, Chiba Children's Hospital, Chiba, Japan.
  • Nitta KR; Department of Pediatrics, Shiga Medical Center for Children, Moriyama, Japan.
  • Ohtake A; Department of Pediatrics, Shiga Medical Center for Children, Moriyama, Japan.
  • Murayama K; Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.
  • Ryan MT; Diagnostics and Therapeutics of Intractable Diseases, Graduate School of Medicine, Juntendo University, Tokyo, Japan.
  • Okazaki Y; Center for Intractable Diseases, Saitama Medical University Hospital, Saitama, Japan.
Clin Genet ; 98(2): 155-165, 2020 08.
Article in En | MEDLINE | ID: mdl-32385911
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Developmental Disabilities / Mitochondrial Diseases / Electron Transport Complex I / Microcephaly / NADH Dehydrogenase Type of study: Risk_factors_studies Limits: Adolescent / Adult / Child / Child, preschool / Humans / Infant / Male Language: En Journal: Clin Genet Year: 2020 Document type: Article Affiliation country: Japan Country of publication: Denmark
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Developmental Disabilities / Mitochondrial Diseases / Electron Transport Complex I / Microcephaly / NADH Dehydrogenase Type of study: Risk_factors_studies Limits: Adolescent / Adult / Child / Child, preschool / Humans / Infant / Male Language: En Journal: Clin Genet Year: 2020 Document type: Article Affiliation country: Japan Country of publication: Denmark