Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.

The article examines the association between nonsense mutations and muscular dystrophy including Becker Muscular Dystrophy (BMD) and Duchenne Muscular Dystrophy (DMD). A survey is conducted and the result identified 243 nonsense mutations in the DMD gene, and in 210 a definitive phenotypes could be established. In patients where nonsense mutations were found, the reading frame predicted by exons were analyzed and revealed that by inducing exon definition skipping, the exonic point mutations could be used in determining phenotypes.