Dystrophin in frameshift deletion patients with Becker muscular dystrophy.

  title={Dystrophin in frameshift deletion patients with Becker muscular dystrophy.},
  author={Suman Gangopadhyay and T G Sherratt and John Heckmatt and Victor Dubowitz and Glenn Miller and Mohamed Hossam Shokeir and Peter N. Ray and Peter N. Strong and Ronald G. Worton},
  journal={American journal of human genetics},
  volume={51 3},
In a previous study we identified 14 cases with Duchenne muscular dystrophy (DMD) or its milder variant, Becker muscular dystrophy (BMD), with a deletion of exons 3-7, a deletion that would be expected to shift the translational reading frame of the mRNA and give a severe phenotype. We have examined dystrophin and its mRNA from muscle biopsies of seven cases with either mild or intermediate phenotypes. In all cases we detected slightly lower-molecular-weight dystrophin in 12%-15% abudance… CONTINUE READING


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