NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological Disease

The molecular basis of cytochrome c oxidase (COX, complex IV) deficiency remains genetically undetermined in many cases. Homozygosity mapping and whole-exome sequencing were performed in a consanguineous pedigree with isolated COX deficiency linked to a Leigh syndrome neurological phenotype. Unexpec...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Robert D.S. Pitceathly, Shamima Rahman, Yehani Wedatilake, James M. Polke, Sebahattin Cirak, A. Reghan Foley, Anna Sailer, Matthew E. Hurles, Jim Stalker, Iain Hargreaves, Cathy E. Woodward, Mary G. Sweeney, Francesco Muntoni, Henry Houlden, Jan-Willem Taanman, Michael G. Hanna
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier 2013-06-01
Colección:Cell Reports
Acceso en línea:http://www.sciencedirect.com/science/article/pii/S2211124713002222
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares