Article
Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.
Human mutation - 1 Mar 2011
Flanigan Kevin M, Dunn Diane M, von Niederhausern Andrew, Soltanzadeh Payam, Howard Michael T, Sampson Jacinda B, Swoboda Kathryn J, Bromberg Mark B, Mendell Jerry R, Taylor Laura E, Anderson Christine B, Pestronk Alan, Florence Julaine M, Connolly Anne M, Mathews Katherine D, Wong Brenda, Finkel Richard S, Bonnemann Carsten G, Day John W, McDonald Craig, Weiss Robert B
Abstract excerpt
Nonsense mutations are usually predicted to function as null alleles due to premature termination of protein translation. However, nonsense mutations in the DMD gene, encoding the dystrophin protein, have been associated with both the severe Duchenne Muscular Dystrophy (DMD) and milder Becker Muscular Dystrophy (BMD) phenotypes. In a large survey, we identified 243 unique nonsense mutations in the DMD gene, and...
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