Abstract
Aminoglycosides have the potential to read through stop codons and thus may induce the synthesis of a full-length protein in inherited disorders. The corrective potential of this approach has been documented in patients with cystic fibrosis caused by nonsense mutations in the cystic fibrosis transmembrane conductance regulator ( CFTR ) gene.1 Results in treatment of mdx mice with gentamicin, an animal model for Duchenne muscular dystrophy, are conflicting. One study showed an increase in the synthesis of dystrophin,2 which was not confirmed in a subsequent study.3 A clinical trial of gentamicin treatment in patients with Duchenne or Becker muscular dystrophy has observed no changes in muscle strength or increased expression of dystrophin in posttreatment muscle biopsies.4 Here we tested the short-term efficacy of gentamicin in patients with McArdle disease, a rare metabolic myopathy with a defect in the rate-limiting enzyme of glycogen breakdown caused by mutations in the myophosphorylase gene. McArdle …
Published Version
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