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Original paper

Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients’ Cells

Volume: 2, Issue: 3, Pages: 281 - 290
Published: Sep 2, 2015
Abstract
Dysferlinopathies are a family of disabling muscular dystrophies with LGMD2B and Miyoshi myopathy as the main phenotypes.They are associated with molecular defects in DYSF, which encodes dysferlin, a key player in sarcolemmal homeostasis.Previous investigations have suggested that exon skipping may be a promising therapy for a subset of patients with dysferlinopathies.Such an approach aims to rescue functional proteins when targeting modular...
Paper Details
Title
Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients’ Cells
Published Date
Sep 2, 2015
Volume
2
Issue
3
Pages
281 - 290
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