Identification of transcripts from a subtraction library which might be responsible for the mild phenotype in an intrafamilially variable course of Duchenne muscular dystrophy

@article{Sifringer2003IdentificationOT,
  title={Identification of transcripts from a subtraction library which might be responsible for the mild phenotype in an intrafamilially variable course of Duchenne muscular dystrophy},
  author={Marco Sifringer and Birgit Uhlenberg and Stefanie Lammel and R. F. Hanke and Benjamin Neumann and Arpad von Moers and Ina Koch and Astrid Speer},
  journal={Human Genetics},
  year={2003},
  volume={114},
  pages={149-156}
}
While frame-shift mutations are usually found in Duchenne muscular dystrophy (DMD), in-frame mutations are associated with the less severe phenotype of Becker’s muscular dystrophy. Exceptions have been reported in both directions suggesting the existence of modifying genes, which might be helpful for innovation of new therapeutic strategies. We report on… CONTINUE READING