Publication
Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency
| dc.contributor.author | Ribeiro, C | |
| dc.contributor.author | Macário, MC | |
| dc.contributor.author | Viegas, AT | |
| dc.contributor.author | Pratas, J | |
| dc.contributor.author | Santos, MJ | |
| dc.contributor.author | Simões, M | |
| dc.contributor.author | Mendes, C | |
| dc.contributor.author | Bacalhau, M | |
| dc.contributor.author | Garcia, P | |
| dc.contributor.author | Diogo, L | |
| dc.contributor.author | Grazina, M | |
| dc.date.accessioned | 2017-07-17T13:59:51Z | |
| dc.date.available | 2017-07-17T13:59:51Z | |
| dc.date.issued | 2016-11 | |
| dc.description.abstract | Leigh syndrome (LS) is a rare, progressive neurodegenerative mitochondrial disorder of infancy. It is a genetically heterogeneous disease. The mutations in SURF1 gene are the most frequently known cause. Here two cases of LS likely caused by SURF1 gene variants are reported: a 39-year-old male patient with a novel homozygous deletion (c.-11_13del), and a case of a 6-year-old boy with the same deletion and a nonsense mutation (c.868dupT), both in heterozygosity. Blue native PAGE showed absence of assembled complex IV. This is the first report of a variant that may abolish the SURF1 gene initiation codon in two LS patients. | pt_PT |
| dc.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.citation | Mitochondrion. 2016 Nov;31:84-88. d | pt_PT |
| dc.identifier.doi | 10.1016/j.mito.2016.10.004 | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.4/2049 | |
| dc.language.iso | eng | pt_PT |
| dc.peerreviewed | yes | pt_PT |
| dc.subject | Proteínas Mitocondriais | pt_PT |
| dc.subject | Doença de Leigh | pt_PT |
| dc.subject | Deficiência de Citocromo-c Oxidase | pt_PT |
| dc.title | Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency | pt_PT |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 88 | pt_PT |
| oaire.citation.startPage | 84-88 | pt_PT |
| oaire.citation.volume | 31 | pt_PT |
| rcaap.rights | openAccess | pt_PT |
| rcaap.type | article | pt_PT |
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