COX deficiency and leukoencephalopathy due to a novel homozygous APOPT1/COA8 mutation.
Hedberg-Oldfors C, Darin N, Thomsen C, Lindberg C, Oldfors A.
Hedberg-Oldfors C, et al. Among authors: oldfors a.
Neurol Genet. 2020 Jun 16;6(4):e464. doi: 10.1212/NXG.0000000000000464. eCollection 2020 Aug.
Neurol Genet. 2020.
PMID: 32637636
Free PMC article.
OBJECTIVE: To describe the long-term follow-up and pathogenesis in a child with leukoencephalopathy and cytochrome c oxidase (COX) deficiency due to a novel homozygous nonsense mutation in APOPT1/COA8. ...CONCLUSIONS: We describe a novel nonsense mutation in APOPT1/COA8 an …
OBJECTIVE: To describe the long-term follow-up and pathogenesis in a child with leukoencephalopathy and cytochrome c oxidase (COX) de …