Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array‐comparative genomic hybridization

@article{Gaudio2008MolecularDO,
  title={Molecular diagnosis of Duchenne/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array‐comparative genomic hybridization},
  author={Daniela del Gaudio and Y. Yang and Barbara A. Boggs and Eric S. Schmitt and Jennifer A. Lee and T. Sahoo and Hoang T. Pham and J. Wiszniewska and A. Craig Chinault and Arthur L. Beaudet and Christine M. Eng},
  journal={Human Mutation},
  year={2008},
  volume={29}
}
  • Daniela del Gaudio, Y. Yang, +8 authors Christine M. Eng
  • Published 2008
  • Biology, Medicine
  • Human Mutation
  • The dystrophinopathies, which include Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and X‐linked dilated cardiomyopathy, are X‐linked recessive neuromuscular disorders caused by mutations in the dystrophin gene (DMD). Approximately 70% of mutations causing DMD/BMD are deletions or duplications and the remainder are point mutations. Current clinical diagnostic strategies have limits of resolution that make detection of small DMD deletions and duplications difficult to… CONTINUE READING
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