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A normal life without muscle dystrophin
A normal life without muscle dystrophin
- Source :
- Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual), Universidade de São Paulo (USP), instacron:USP
- Publication Year :
- 2015
-
Abstract
- 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.
- Subjects :
- 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
Subjects
Details
- Database :
- OpenAIRE
- Journal :
- Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual), Universidade de São Paulo (USP), instacron:USP
- Accession number :
- edsair.doi.dedup.....10a9a95e24b9e604a2520255e9baddc2