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

Author(s):
Helderman-van den Enden, A.T.J.M.; Straathof, C.S.M.; Aartsma-Rus, A.; Dunnen, J.T. den (0000-0002-6304-1710); Verbist, B.M.; Bakker, E. (0000-0002-2843-7357); Verschuuren, J.J.G.M. (0000-0002-4572-1501); Ginjaar, H.B.
Published
2010
Publication type
Article / Letter to editor

Abstract

Theoretically, 13% of patients with Duchenne muscular dystrophy may benefit from antisense-mediated slopping 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. (C) 2010 Elsevier B.V. All rights reserved.

Duchenne muscular dystrophy Becker muscular dystrophy Exon skipping therapy Exon 51 Databases Mild phenotype dmd gene mutations family dystrophinopathy amplification diagnosis muscle domain bmd
Date issued
2010-04-30
Language
English
Is part of
hdl
1887/100556
doi
10.1016/j.nmd.2010.01.013