A normal life without muscle dystrophin

Neuromuscular Disorders : NMD
Mayana ZatzT Andrade

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.

References

Jan 20, 2005·Veterinary Pathology·A Tidholm, L Jönsson
Mar 31, 2015·Neuromuscular Disorders : NMD·Natassia M VieiraG Diane Shelton

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Citations

Feb 8, 2016·Neuromuscular Disorders : NMD·Mariz VainzofMayana Zatz
Jan 24, 2016·Neuromuscular Disorders : NMD·Ronald D Cohn, Victor Dubowitz
Nov 20, 2015·Cell·Natassia M VieiraMayana Zatz
Apr 22, 2015·Neuromuscular Disorders : NMD·Victor Dubowitz, Ronald D Cohn
Sep 7, 2017·Muscle & Nerve·Rylie M Hightower, Matthew S Alexander
Aug 28, 2019·Journal of Neuromuscular Diseases·Inès BarthélémyLaurent Tiret
May 24, 2017·Proceedings of the National Academy of Sciences of the United States of America·Natassia M VieiraLouis M Kunkel
Nov 23, 2020·Molecular Therapy : the Journal of the American Society of Gene Therapy·Matthias R LambertLouis M Kunkel

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