Enormous dystrophin in a patient with Becker muscular dystrophy.

  title={Enormous dystrophin in a patient with Becker muscular dystrophy.},
  author={Corrado Angelini and Alan H. Beggs and Eric P. Hoffman and Marina Fanin and Louis M. Kunkel},
  volume={40 5},
We describe a patient with a duplication of more than 400,000 bp of the dystrophin gene. The duplication is completely contained within the gene, and the duplicated exons are predicted to be "in frame" with the rest of the gene. Dystrophin protein is detected in the patient's muscle as a single species of approximately 600 kDa (normal, approximately 400 kDa), indicating that the resulting mutated gene codes for a translatable mRNA of over 100 exons (normal, approximately 70 exons). The patient… CONTINUE READING