title: A normal life without muscle dystrophin.
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.
authors.affiliation: Human Genome Research Center, Institute of Biosciences, São Paulo, Brazil. Electronic address: mayazatz@usp.br.
authors.forename: M
authors.initials: M
authors.lastname: Zatz
authors.affiliation: Human Genome Research Center, Institute of Biosciences, São Paulo, Brazil.
authors.forename: N M
authors.initials: NM
authors.lastname: Vieira
authors.affiliation: Human Genome Research Center, Institute of Biosciences, São Paulo, Brazil.
authors.forename: E
authors.initials: E
authors.lastname: Zucconi
authors.affiliation: Human Genome Research Center, Institute of Biosciences, São Paulo, Brazil.
authors.forename: M
authors.initials: M
authors.lastname: Pelatti
authors.affiliation: Human Genome Research Center, Institute of Biosciences, São Paulo, Brazil.
authors.forename: J
authors.initials: J
authors.lastname: Gomes
authors.affiliation: Human Genome Research Center, Institute of Biosciences, São Paulo, Brazil.
authors.forename: M
authors.initials: M
authors.lastname: Vainzof
authors.affiliation: Human Genome Research Center, Institute of Biosciences, São Paulo, Brazil.
authors.forename: A B
authors.initials: AB
authors.lastname: Martins-Bach
authors.affiliation: Faculty of Medicine, University of São Paulo, São Paulo, Brazil.
authors.forename: M C
authors.initials: MC
authors.lastname: Garcia Otaduy
authors.affiliation: Faculty of Medicine, University of São Paulo, São Paulo, Brazil.
authors.forename: G
authors.initials: G
authors.lastname: Bento dos Santos
authors.affiliation: Faculty of Medicine, University of São Paulo, São Paulo, Brazil.
authors.forename: E
authors.initials: E
authors.lastname: Amaro
authors.affiliation: Human Genome Research Center, Institute of Biosciences, São Paulo, Brazil.
authors.forename: V
authors.initials: V
authors.lastname: Landini
authors.affiliation: Human Genome Research Center, Institute of Biosciences, São Paulo, Brazil.
authors.forename: T
authors.initials: T
authors.lastname: Andrade
mesh_terms: D000818:Animals; D004283:Dog Diseases / Q000378:metabolism*; D004285:Dogs; D016189:Dystrophin / Q000378:metabolism*; D018482:Muscle, Skeletal / Q000378:metabolism*; D009137:Muscular Dystrophy, Animal / Q000378:metabolism*; D020388:Muscular Dystrophy, Duchenne / Q000209:etiology; D010641:Phenotype
chemical_list: D016189:Dystrophin
keywords: Functional muscle no dystrophin; GRMD mild course; Mild course no utrophin up-regulation; Muscular dystrophy