Ontology highlight
ABSTRACT:
SUBMITTER: Adkin CF
PROVIDER: S-EPMC3488593 | biostudies-literature | 2012 Apr
REPOSITORIES: biostudies-literature
Adkin Carl F CF Meloni Penelope L PL Fletcher Susan S Adams Abbie M AM Muntoni Francesco F Wong Brenda B Wilton Steve D SD
Neuromuscular disorders : NMD 20111217 4
Manipulation of dystrophin pre-mRNA processing offers the potential to overcome mutations in the dystrophin gene that would otherwise lead to Duchenne muscular dystrophy. Dystrophin mutations will require the removal of one or more exons to restore the reading frame and in some cases, multiple exon skipping strategies exist to restore dystrophin expression. However, for some small intra-exonic mutations, a third strategy, not applicable to whole exon deletions, may be possible. The removal of on ...[more]