Article
Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials.
Brain : a journal of neurology - 1 Dec 2011
Anthony Karen, Cirak Sebahattin, Torelli Silvia, Tasca Giorgio, Feng Lucy, Arechavala-Gomeza Virginia, Armaroli Annarita, Guglieri Michela, Straathof Chiara S, Verschuuren Jan J, Aartsma-Rus Annemieke, Helderman-van den Enden Paula, Bushby Katherine, Straub Volker, Sewry Caroline, Ferlini Alessandra, Ricci Enzo, Morgan Jennifer E, Muntoni Francesco
Abstract excerpt
Duchenne muscular dystrophy is caused by mutations in the DMD gene that disrupt the open reading frame and prevent the full translation of its protein product, dystrophin. Restoration of the open reading frame and dystrophin production can be achieved by exon skipping using antisense oligonucleotides targeted to splicing elements. This approach aims to transform the Duchenne muscular dystrophy phenotype to that...
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