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Myopathy

New findings from University Medical Center, Center for Human and Clinical Genetics in the area of myopathy described

Published in Gene Therapy Weekly, August 19th, 2010

Data detailed in 'Therapeutic exon skipping for dysferlinopathies' have been presented. "Antisense-mediated exon skipping is a promising therapeutic approach for Duchenne muscular dystrophy (DMD) currently tested in clinical trials. The aim is to reframe dystrophin transcripts using antisense oligonucleotides (AONs)," scientists in Leiden, Netherlands report.

"These hide an exon from the splicing machinery to induce exon skipping, restoration of the reading frame and generation of internally deleted, but partially functional proteins. It thus relies on the characteristic of the dystrophin protein, which has essential N-and C-terminal domains, whereas the central rod...

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