Leber's hereditary optic neuropathy: Clinical and molecular profile of a Brazilian sample

dc.creatorMaciel-Guerra, AT
dc.creatorZanchetta, LM
dc.creatorFernandes, MSA
dc.creatorAndrade, PB
dc.creatorMiranda, PMDD
dc.creatorSartorato, EL
dc.date2010
dc.dateSEP
dc.date2014-11-18T03:56:25Z
dc.date2015-11-26T17:46:25Z
dc.date2014-11-18T03:56:25Z
dc.date2015-11-26T17:46:25Z
dc.date.accessioned2018-03-29T00:28:56Z
dc.date.available2018-03-29T00:28:56Z
dc.identifierOphthalmic Genetics. Taylor & Francis Inc, v. 31, n. 3, n. 126, n. 128, 2010.
dc.identifier1381-6810
dc.identifierWOS:000282248100004
dc.identifier10.3109/13816810.2010.483721
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/80830
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/80830
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/80830
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1288482
dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.descriptionPurpose: The aim of this study was to describe clinical features and search for primary mitochondrial DNA (mtDNA) mutations in 13 unrelated Brazilian patients with Leber's hereditary optic neuropathy (LHON). Methods: Analysis of the G11778A, G3460A, and T14484C mutations was done by polymerase chain reaction and restriction fragment length polymorphism, and mutations were confirmed by direct sequencing. Mean age of onset was 24.5 years and all cases were bilateral. Results: Sex ratio (12M:1F) and frequency of simultaneous involvement (9/13) were higher than in other studies. In nine cases there was familial recurrence: 24 male and two female relatives. Ten patients had a mutation: G11778A in six, T14484C in three and one G3460A. The frequency of patients bearing a primary mutation was lower than that described in multicentric studies but similar to that observed among Asians. A higher frequency of the T14484C mutation was detected. Conclusions: The contribution of Amerindians and Africans to the Brazilian mtDNA pool may account for differences in the type and frequency of primary LHON mutations.
dc.description31
dc.description3
dc.description126
dc.description128
dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.descriptionFAPESP [04/16074-4]
dc.languageen
dc.publisherTaylor & Francis Inc
dc.publisherPhiladelphia
dc.publisherEUA
dc.relationOphthalmic Genetics
dc.relationOphthalmic Genet.
dc.rightsfechado
dc.rightshttp://journalauthors.tandf.co.uk/permissions/reusingOwnWork.asp
dc.sourceWeb of Science
dc.subjectoptic nerve diseases
dc.subjectLeber's hereditary optic neuropathy
dc.subjectLHON
dc.subjectgenetics
dc.subjectMutations
dc.titleLeber's hereditary optic neuropathy: Clinical and molecular profile of a Brazilian sample
dc.typeArtículos de revistas


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