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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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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3990160/ https://ncbi.nlm.nih.gov/pubmed/24399447 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddt652 |
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