COX deficiency and leukoencephalopathy due to a novel homozygous APOPT1/COA8 mutation

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. METHODS: The patient was clinically investigated at 3, 5, 9, and 25 years of age. Brain MRI, repea...

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Detalles Bibliográficos
Autores principales: Hedberg-Oldfors, Carola, Darin, Niklas, Thomsen, Christer, Lindberg, Christopher, Oldfors, Anders
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7323480/
https://www.ncbi.nlm.nih.gov/pubmed/32637636
http://dx.doi.org/10.1212/NXG.0000000000000464

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7323480/
https://www.ncbi.nlm.nih.gov/pubmed/32637636
http://dx.doi.org/10.1212/NXG.0000000000000464

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