Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy

Primary mitochondrial diseases are a group of genetically and clinically heterogeneous disorders resulting from oxidative phosphorylation (OXPHOS) defects. COX11 encodes a copper chaperone that participates in the assembly of complex IV and has not been previously linked to human disease. In a previ...

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Detalles Bibliográficos
Autores principales: Rius, Rocio, Bennett, Neal K., Bhattacharya, Kaustuv, Riley, Lisa G., Yüksel, Zafer, Formosa, Luke E., Compton, Alison G., Dale, Russell C., Cowley, Mark J., Gayevskiy, Velimir, Al Tala, Saeed M., Almehery, Abdulrahman A., Ryan, Michael T., Thorburn, David R., Nakamura, Ken, Christodoulou, John
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9771894/
https://www.ncbi.nlm.nih.gov/pubmed/36030551
http://dx.doi.org/10.1002/humu.24453

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9771894/
https://www.ncbi.nlm.nih.gov/pubmed/36030551
http://dx.doi.org/10.1002/humu.24453

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