Article
An intronic LINE-1 element insertion in the dystrophin gene aborts dystrophin expression and results in Duchenne-like muscular dystrophy in the corgi breed.
Laboratory investigation; a journal of technical methods and pathology - 1 Feb 2011
Smith Bruce F, Yue Yongping, Woods Philip R, Kornegay Joe N, Shin Jin-Hong, Williams Regina R, Duan Dongsheng
Abstract excerpt
Duchenne muscular dystrophy (DMD) is a dystrophin-deficient lethal muscle disease. To date, the catastrophic muscle wasting phenotype has only been seen in dystrophin-deficient humans and dogs. Although Duchenne-like symptoms have been observed in more than a dozen dog breeds, the mutation is often not known and research colonies are rarely established. Here, we report an independent canine DMD model originally...
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