A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency

Isolated mitochondrial complex IV (cytochrome c oxidase) deficiency is an important cause of mitochondrial disease in children and adults. It is genetically heterogeneous, given that both mtDNA-encoded and nuclear-encoded gene products contribute to structural components and assembly factors. Pathog...

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Detalles Bibliográficos
Autores principales: Oláhová, Monika, Haack, Tobias B, Alston, Charlotte L, Houghton, Jessica AC, He, Langping, Morris, Andrew AM, Brown, Garry K, McFarland, Robert, Chrzanowska-Lightowlers, Zofia MA, Lightowlers, Robert N, Prokisch, Holger, Taylor, Robert W
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4305338/
https://www.ncbi.nlm.nih.gov/pubmed/25293719
http://dx.doi.org/10.1038/ejhg.2014.214

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4305338/
https://www.ncbi.nlm.nih.gov/pubmed/25293719
http://dx.doi.org/10.1038/ejhg.2014.214

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