Peer-reviewed veterinary case report
Golden retriever with mild muscular dystrophy despite missing
By Zucconi, Eder et al.·Published in Neuromuscular disorders : NMD·2010·Department of Genetic and Evolutive Biology, Brazil·View original on PubMed →
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Original publication title: Ringo: discordance between the molecular and clinical manifestation in a golden retriever muscular dystrophy dog.
- Species:
- dog
Plain-English summary
A Golden Retriever named Ringo, born in July 2003, showed very mild muscle weakness despite having a genetic condition similar to Duchenne Muscular Dystrophy (DMD). This condition usually leads to severe and progressive muscle issues, but Ringo and one of his descendants, Suflair, displayed only mild symptoms. Researchers found that while both dogs lacked a protein called dystrophin, they had higher levels of another protein, utrophin, which may help protect them from the severe effects of the disease. This case highlights the importance of understanding individual variations in genetic conditions and their clinical implications.
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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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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/19944604/