Article
Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy.
Human mutation - 1 Feb 2007
Béroud Christophe, Tuffery-Giraud Sylvie, Matsuo Masafumi, Hamroun Dalil, Humbertclaude Véronique, Monnier Nicole, Moizard Marie-Pierre, Voelckel Marie-Antoinette, Calemard Laurence Michel, Boisseau Pierre, Blayau Martine, Philippe Christophe, Cossée Mireille, Pagès Michel, Rivier François, Danos Olivier, Garcia Luis, Claustres Mireille
Abstract excerpt
Approximately two-thirds of Duchenne muscular dystrophy (DMD) patients show intragenic deletions ranging from one to several exons of the DMD gene and leading to a premature stop codon. Other deletions that maintain the translational reading frame of the gene result in the milder Becker muscular dystrophy (BMD) form of the disease. Thus the opportunity to transform a DMD phenotype into a BMD phenotype appeared as...
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