Publication
"Double troubleā or digenic disorder in Complex I deficiency
| dc.contributor.author | Almeida, L.S. | |
| dc.contributor.author | Ferreira, M. | |
| dc.contributor.author | Nogueira, C. | |
| dc.contributor.author | Furtado, F. | |
| dc.contributor.author | Evangelista, T. | |
| dc.contributor.author | Santorelli, F.M. | |
| dc.contributor.author | Vilarinho, L. | |
| dc.date.accessioned | 2013-02-12T16:16:28Z | |
| dc.date.available | 2013-02-12T16:16:28Z | |
| dc.date.issued | 2012-06 | |
| dc.description.abstract | Complex I (CI) deficiency is a defect of OXPHOS caused by mutations in the mitochondrial or nuclear genomes. To date disease-causing mutations have been reported in all mitochondrial-encoded subunits and 22 nuclear genes. In about 50% of the patients no mutations are found, suggesting that undiscovered factors are an important cause of disease. In this study we report a consanguineous family from Southern Portugal with three affected children presenting with CI deficiency and 3-methylglutaconic aciduria type IV. | por |
| dc.identifier.uri | http://hdl.handle.net/10400.18/1305 | |
| dc.language.iso | eng | por |
| dc.peerreviewed | yes | por |
| dc.publisher | Instituto Nacional de SaĆŗde Doutor Ricardo Jorge, IP | por |
| dc.subject | DoenƧas GenƩticas | por |
| dc.subject | DoenƧas Mitocondriais | por |
| dc.subject | DĆ©fice de Complexo I | por |
| dc.title | "Double troubleā or digenic disorder in Complex I deficiency | por |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Bethesda, Washington, EUA | por |
| oaire.citation.title | UMDF Symposium "Mitochondrial Medicine: from genomics and systems biology to translation", June 13-16, 2012 | por |
| rcaap.rights | openAccess | por |
| rcaap.type | conferenceObject | por |