Becker muscular dystrophy patients with deletions around exon 51; a promising outlook for exon skipping therapy in Duchenne patients

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• 作者：A.T.J.M. Helderman-van den Enden ; C.S.M. Straathof ; A. Aartsma-Rus ; J.T. den Dunnen ; B.M. Verbist ; E. Bakker ; J.J.G.M. Verschuuren ; H.B. Ginjaar
• 关键词：Duchenne muscular dystrophy ; Becker muscular dystrophy ; Exon skipping therapy ; Exon 51 ; Databases ; Mild phenotype
• 刊名：Neuromuscular Disorders
• 出版年：2010
• 出版时间：April 2010
• 年：2010
• 卷：20
• 期：4
• 页码：251-254
• 全文大小：192 K

文摘

Theoretically, 13 % of patients with Duchenne muscular dystrophy may benefit from antisense-mediated skipping of exon 51 to restore the reading frame, which results in the production of a shortened dystrophin protein. We give a detailed description with longitudinal follow up of three patients with Becker muscular dystrophy with in-frame deletions in the DMD gene encompassing exon 51. Their internally deleted, but essentially functional, dystrophins are identical to those that are expected as end products in DMD patients treated with the exon 51 skipping therapy. The mild phenotype encourages further development of exon 51 skipping therapy.