Duchenne (DMD) and Becker (BMD) muscular dystrophies are allelic neuromuscular disorders which are caused by defects of the dystrophin gene, one third of which arising from new mutations. This 2.5-Mb ...

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Figure 1: EP300 and its protein product with mutations. Further evidence of the likely pathogenic nature of these alterations comes from the status of the second allele. In five of the six cases with ...