Multiple exon skipping and RNA circularisation contribute to the severe phenotypic expression of exon 5 dystrophin deletion.

@article{Gualandi2003MultipleES,
  title={Multiple exon skipping and RNA circularisation contribute to the severe phenotypic expression of exon 5 dystrophin deletion.},
  author={Francesca Gualandi and Cecilia Trabanelli and Paola Rimessi and Elisa Calzolari and Luisa Toffolatti and Tomaso Patarnello and Gabriella Kunz and Francesco Muntoni and Alessandra Ferlini},
  journal={Journal of medical genetics},
  year={2003},
  volume={40 8},
  pages={e100}
}
Deletion and duplication of one or more exons in the dystrophin gene account for 70% of patients with Duchenne and Becker muscular dystrophies (DMD and BMD) and other allelic clinical entities such as raised serum creatine kinase and X linked dilated cardiomyopathy (XLDC). The severity of the resulting phenotype can be generally predicted by whether these mutations lead to translation frame disruption and premature termination of protein synthesis. Nevertheless, the occurrence of severely… CONTINUE READING

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