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  • Title: Ringo: discordance between the molecular and clinical manifestation in a golden retriever muscular dystrophy dog.
    Author: Zucconi E, Valadares MC, Vieira NM, Bueno CR, Secco M, Jazedje T, da Silva HC, Vainzof M, Zatz M.
    Journal: Neuromuscul Disord; 2010 Jan; 20(1):64-70. PubMed ID: 19944604.
    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.
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