Article
DMD genotype correlations from the Duchenne Registry: Endogenous exon skipping is a factor in prolonged ambulation for individuals with a defined mutation subtype.
Human mutation - 1 Sept 2018
Wang Richard T, Barthelemy Florian, Martin Ann S, Douine Emilie D, Eskin Ascia, Lucas Ann, Lavigne Jenifer, Peay Holly, Khanlou Negar, Sweeney Lee, Cantor Rita M, Miceli M Carrie, Nelson Stanley F
Abstract excerpt
Antisense oligonucleotide (AON)-mediated exon skipping is an emerging therapeutic for individuals with Duchenne muscular dystrophy (DMD). Skipping of exons adjacent to common exon deletions in DMD using AONs can produce in-frame transcripts and functional protein. Targeted skipping of DMD exons 8, 44, 45, 50, 51, 52, 53, and 55 is predicted to benefit 47% of affected individuals. We observed a correlation between...
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