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Loss of LRPPRC causes ATP synthase deficiency

Defects of the oxidative phosphorylation system, in particular of cytochrome-c oxidase (COX, respiratory chain complex IV), are common causes of Leigh syndrome (LS), which is a rare neurodegenerative disorder with severe progressive neurological symptoms that usually present during infancy or early...

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Detalles Bibliográficos
Autores principales: Mourier, Arnaud, Ruzzenente, Benedetta, Brandt, Tobias, Kühlbrandt, Werner, Larsson, Nils-Göran
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3990160/
https://www.ncbi.nlm.nih.gov/pubmed/24399447
http://dx.doi.org/10.1093/hmg/ddt652