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Neuromuscul Disord. 2010 Apr;20(4):251-4. doi: 10.1016/j.nmd.2010.01.013. Epub 2010 Feb 13.

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

Author information

1
Center for Human and Clinical Genetics, The Leiden University Medical Center, Einthovenweg 20, 2333 ZC Leiden, The Netherlands. Helderman@lumc.nl

Abstract

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.

PMID:
20153965
DOI:
10.1016/j.nmd.2010.01.013
[Indexed for MEDLINE]

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