Abstract
Nonsense mutations lead to premature termination codons and are present in ∼15-20% of junctional (JEB) and recessive dystrophic EB (RDEB) patients. Gentamicin allows PTC readthrough to restore protein production and reverses phenotype. While topical gentamicin has shown to be efficacious for EB patients with nonsense mutations, systemic infusion could help the generalized nature of the disease. In this study, two RDEB and one JEB adult patients were given IV gentamicin (7mg/kg/day, once daily) for 2 weeks.
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