Article
Interplay between DMD point mutations and splicing signals in Dystrophinopathy phenotypes.
PloS one - 1 Jan 2013
Juan-Mateu Jonàs, González-Quereda Lidia, Rodríguez Maria José, Verdura Edgard, Lázaro Kira, Jou Cristina, Nascimento Andrés, Jiménez-Mallebrera Cecilia, Colomer Jaume, Monges Soledad, Lubieniecki Fabiana, Foncuberta Maria Eugenia, Pascual-Pascual Samuel Ignacio, Molano Jesús, Baiget Montserrat, Gallano Pia
Abstract excerpt
DMD nonsense and frameshift mutations lead to severe Duchenne muscular dystrophy while in-frame mutations lead to milder Becker muscular dystrophy. Exceptions are found in 10% of cases and the production of alternatively spliced transcripts is considered a key modifier of disease severity. Several exonic mutations have been shown to induce exon-skipping, while splice site mutations result in exon-skipping or...
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