A normal life without muscle dystrophin
| Autor: | J. Gomes, Mariz Vainzof, M.C. Garcia Otaduy, Mayana Zatz, A.B. Martins-Bach, V. Landini, Mayra Pelatti, G. Bento dos Santos, Telma Gonçalves Carneiro Spera de Andrade, Eder Zucconi, Natássia M. Vieira, Edson Amaro |
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| Rok vydání: | 2015 |
| Předmět: |
musculoskeletal diseases
Golden retriever muscular dystrophy Pathology medicine.medical_specialty Mild phenotype Degeneration (medical) Dystrophin Dogs Clinical history Utrophin medicine Animals Dog Diseases Muscular dystrophy DISTROFIA MUSCULAR ANIMAL Muscle Skeletal Genetics (clinical) biology business.industry Anatomy Muscular Dystrophy Animal medicine.disease Muscular Dystrophy Duchenne Phenotype Neurology Pediatrics Perinatology and Child Health biology.protein Neurology (clinical) business |
| Zdroj: | Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual) Universidade de São Paulo (USP) instacron:USP |
| Popis: | Here we summarize the clinical history of Ringo, a golden retriever muscular dystrophy (GRMD) dog, who had a mild phenotype despite the absence of muscle dystrophin. Ringo died of cardiac arrest at age 11 and therefore displayed a normal lifespan. One of his descendants, Suflair, born April 2006, also displays a mild course. Dystrophin analysis confirmed total absence of muscle dystrophin in both dogs. Muscle utrophin expression did not differ from severely affected GRMD dogs. Finding what protects these special dogs from the dystrophic degeneration process is now a great challenge that may open new avenues for treatment. But most importantly, the demonstration that it is possible to have a functional muscle, in a medium-large animal even in the absence of dystrophin, brings new hope for Duchenne patients. |
| Databáze: | OpenAIRE |
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