DOI: 10.1093/ced/llag263 ISSN: 0307-6938
Intravenous gentamicin therapy in children with severe recessive dystrophic epidermolysis bullosa patients with nonsense COL7A1 mutations
Pablo Lopez-Balboa, Maria L Bageta, Sumaiya Alauddin, Gabriela Petrof, Anna E MartinezAminoglycoside-mediated readthrough offers a targeted strategy to restore type VII collagen in RDEB caused by COL7A1 nonsense mutations. Systemic gentamicin was safe and produced notable but reversible clinical improvement in paediatric patients.