Article
Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations.
Annals of neurology - 1 Jun 2001
Wagner K R, Hamed S, Hadley D W, Gropman A L, Burstein A H, Escolar D M, Hoffman E P, Fischbeck K H
Abstract excerpt
Aminoglycosides have previously been shown to suppress nonsense mutations, allowing translation of full-length proteins in vitro and in animal models. In the mdx mouse, where muscular dystrophy is due to a nonsense mutation in the dystrophin gene, gentamicin suppressed truncation of the protein and ameliorated the phenotype. A subset of patients with Duchenne and Becker muscular dystrophy similarly possess a...
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