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A normal life without muscle dystrophin.

Authors :
Zatz M
Vieira NM
Zucconi E
Pelatti M
Gomes J
Vainzof M
Martins-Bach AB
Garcia Otaduy MC
Bento dos Santos G
Amaro E Jr
Landini V
Andrade T
Source :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2015 May; Vol. 25 (5), pp. 371-4. Date of Electronic Publication: 2015 Feb 24.
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.<br /> (Copyright © 2015 Elsevier B.V. All rights reserved.)

Details

Language :
English
ISSN :
1873-2364
Volume :
25
Issue :
5
Database :
MEDLINE
Journal :
Neuromuscular disorders : NMD
Publication Type :
Academic Journal
Accession number :
25770920
Full Text :
https://doi.org/10.1016/j.nmd.2015.02.007