Please use this identifier to cite or link to this item:
Title: Ringo: Discordance between the molecular and clinical manifestation in a Golden Retriever Muscular Dystrophy dog
Authors: Zucconi, Eder
Valadares, Marcos Costa
Vieira, Natassia M.
Bueno, Carlos R.
Secco, Mariane
Jazedje, Tatiana
Almeida da Silva, Helga Cristina [UNIFESP]
Vainzof, Mariz
Zatz, Mayana
Universidade de São Paulo (USP)
Universidade Federal de São Paulo (UNIFESP)
Keywords: Golden Retriever Muscular Dystrophy
Duchenne Muscular Dystrophy
Mild phenotype
Issue Date: 1-Jan-2010
Publisher: Elsevier B.V.
Citation: Neuromuscular Disorders. Oxford: Pergamon-Elsevier B.V., v. 20, n. 1, p. 64-70, 2010.
Abstract: Of 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.
ISSN: 0960-8966
Other Identifiers:
Appears in Collections:Em verificação - Geral

Files in This Item:
There are no files associated with this item.

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.