Article
Biochemical characterization of patients with in-frame or out-of-frame DMD deletions pertinent to exon 44 or 45 skipping.
JAMA neurology - 1 Jan 2014
Anthony Karen, Arechavala-Gomeza Virginia, Ricotti Valeria, Torelli Silvia, Feng Lucy, Janghra Narinder, Tasca Giorgio, Guglieri Michela, Barresi Rita, Armaroli Annarita, Ferlini Alessandra, Bushby Katherine, Straub Volker, Ricci Enzo, Sewry Caroline, Morgan Jennifer, Muntoni Francesco
Abstract excerpt
IMPORTANCE: In Duchenne muscular dystrophy (DMD), the reading frame of an out-of-frame DMD deletion can be repaired by antisense oligonucleotide (AO)-mediated exon skipping. This creates a shorter dystrophin protein, similar to those expressed in the milder Becker muscular dystrophy (BMD). The skipping of some exons may be more efficacious than others. Patients with exon 44 or 45 skippable deletions (AOs in...
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