Ringo: Discordance between the molecular and clinical manifestation in a Golden Retriever Muscular Dystrophy dog

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dc.contributor.authorZucconi, Eder
dc.contributor.authorValadares, Marcos Costa
dc.contributor.authorVieira, Natassia M.
dc.contributor.authorBueno, Carlos R.
dc.contributor.authorSecco, Mariane
dc.contributor.authorJazedje, Tatiana
dc.contributor.authorAlmeida da Silva, Helga Cristina [UNIFESP]
dc.contributor.authorVainzof, Mariz
dc.contributor.authorZatz, Mayana
dc.contributor.institutionUniversidade de São Paulo (USP)
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.date.accessioned2016-01-24T13:59:07Z
dc.date.available2016-01-24T13:59:07Z
dc.date.issued2010-01-01
dc.description.abstractOf the various genetic homologues to Duchenne Muscular Dystrophy (DMD), the Golden Retriever Muscular Dystrophy (GRMD) dog, which presents a variable but usually severe and progressive muscle weakness, has the closest relevance to DMD in both clinical severity and histopathological change. Among 77 GRMD dogs born in our colony in Brazil, we have identified a very mildly affected dog, Ringo, born July 2003. Among his descendants, at least one male, Suflair, is also showing a mild course. in an attempt to better characterize these two dogs, we studied the pattern of muscle proteins expression in Ringo and Suflair, as compared to severely affected and normal control dogs. Dystrophin was absent in both and utrophin was overexpressed in a pattern similar to the observed in severely affected dogs. Understanding the mechanism that is protecting Ringo and Suflair from the deleterious effect of the dystrophin gene mutation is of utmost interest, in addition it points out that the clinical impact of therapeutic trials should be interpreted with caution. (C) 2009 Elsevier B.V. All rights reserved.en
dc.description.affiliationUniv São Paulo, Human Genome Res Ctr, Dept Genet & Evolut Biol, BR-05508090 São Paulo, Brazil
dc.description.affiliationUniversidade Federal de São Paulo, Dept Surg, Ctr Study Diag & Invest Malignant Hyperthermia, São Paulo, Brazil
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Dept Surg, Ctr Study Diag & Invest Malignant Hyperthermia, São Paulo, Brazil
dc.description.sourceWeb of Science
dc.description.sponsorshipFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.description.sponsorshipConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
dc.description.sponsorshipFINEP
dc.description.sponsorshipABDIM
dc.format.extent64-70
dc.identifierhttp://dx.doi.org/10.1016/j.nmd.2009.10.011
dc.identifier.citationNeuromuscular Disorders. Oxford: Pergamon-Elsevier B.V., v. 20, n. 1, p. 64-70, 2010.
dc.identifier.doi10.1016/j.nmd.2009.10.011
dc.identifier.issn0960-8966
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/32111
dc.identifier.wosWOS:000274772600011
dc.language.isoeng
dc.publisherElsevier B.V.
dc.relation.ispartofNeuromuscular Disorders
dc.rightsAcesso restrito
dc.rights.licensehttp://www.elsevier.com/about/open-access/open-access-policies/article-posting-policy
dc.subjectGolden Retriever Muscular Dystrophyen
dc.subjectDuchenne Muscular Dystrophyen
dc.subjectDystrophinen
dc.subjectMild phenotypeen
dc.titleRingo: Discordance between the molecular and clinical manifestation in a Golden Retriever Muscular Dystrophy dogen
dc.typeArtigo
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