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Neuromuscul Disord. 2015 May;25(5):371-4. doi: 10.1016/j.nmd.2015.02.007. Epub 2015 Feb 24.

A normal life without muscle dystrophin.

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Human Genome Research Center, Institute of Biosciences, São Paulo, Brazil. Electronic address:
Human Genome Research Center, Institute of Biosciences, São Paulo, Brazil.
Faculty of Medicine, University of São Paulo, São Paulo, Brazil.


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.


Functional muscle no dystrophin; GRMD mild course; Mild course no utrophin up-regulation; Muscular dystrophy

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