Matsuo Masafumi, Takeshima Yasuhiro, Yagi Mariko, Ishibashi Kazuto, Wada Hiroko
Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Hyogo.
No To Hattatsu. 2004 Mar;36(2):125-9.
This article reviews the clinical application of gentamicin treatment for nonsense mutations. Since gentamicin is applied only for Duchenne muscular dystrophy caused by a nonsense mutation, genetic diagnosis of DMD is reviewed. Of the two reports describing gentamicin treatment of DMD, one concluded it to be effective, and the other to be ineffective.
本文综述了庆大霉素治疗无义突变的临床应用。由于庆大霉素仅用于由无义突变引起的杜氏肌营养不良症,因此对杜氏肌营养不良症的基因诊断进行了综述。在两篇描述庆大霉素治疗杜氏肌营养不良症的报告中,一篇认为其有效,另一篇则认为无效。