Asymptomatic Becker muscular dystrophy in a family with a multiexon deletion.

@article{Ferreiro2009AsymptomaticBM,
  title={Asymptomatic Becker muscular dystrophy in a family with a multiexon deletion.},
  author={V. Soares Ferreiro and Florencia Giliberto and Garc{\'i}a M Noelia Mu{\~n}iz and Liliana Francipane and Diego M Marzese and Alejandra Mampel and Maria del Pilar Roque and Gustavo Daniel Frechtel and Irene Szijan},
  journal={Muscle & nerve},
  year={2009},
  volume={39 2},
  pages={239-43}
}
We report a Becker muscular dystrophy (BMD) family with one 5-year-old affected patient and a 69-year-old asymptomatic grandfather. Dystrophin gene multiplex polymerase chain reaction and multiplex ligation-dependant probe amplification analysis showed that both males carried an in-frame deletion of exons 45-55. Segregation analysis revealed two additional asymptomatic boys in this family. Our finding supports previous predictions that exons 45-55 are the optimal multiexon skipping target in… CONTINUE READING