Leiden University Scholarly Publications

Your Search

Enabled Filters

  • (-) = Duchenne muscular dystrophy Becker muscular dystrophy Exon skipping therapy Exon 51 Databases Mild phenotype dmd gene mutations family dystrophinopathy amplification diagnosis muscle domain bmd

Refine Results

Availability

Faculty

Search results

  • RSS Feed
(1 - 1 of 1)
Becker muscular dystrophy patients with deletions around exon 51; a promising outlook for exon skipping therapy in Duchenne patients
Helderman-van den Enden, A.T.J.M.; Straathof, C.S.M.; Aartsma-Rus, A.; Dunnen, J.T. den; Verbist, B.M.; Bakker, E.; ... ; Ginjaar, H.B. 2010
Becker muscular dystrophy patients with deletions around exon 51; a promising outlook for exon skipping therapy in Duchenne patients
Article / Letter to editor
metadata only
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... Show moreTheoretically, 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. Show less