Duchenne muscular dystrophy: Pathogenetic aspects and genetic prevention

@article{Moser2004DuchenneMD,
  title={Duchenne muscular dystrophy: Pathogenetic aspects and genetic prevention},
  author={H. Moser},
  journal={Human Genetics},
  year={2004},
  volume={66},
  pages={17-40}
}
  • H. Moser
  • Published 2004
  • Biology, Medicine
  • Human Genetics
  • SummaryDuchenne muscular dystrophy (DMD) is the most common sex linked lethal disease in man (one case in about 4000 male live births). The patients are wheelchair bound around the age of 8–10 years and usually die before the age of 20 years. The mutation rate, estimated by different methods and from different population studies, is in the order of 7×10-5, which is higher than for any other X-linked genetic disease. Moreover, unlike other X linked diseases such as hemophilia A or Lesh-Nyhan's… CONTINUE READING

    References

    Publications referenced by this paper.
    SHOWING 1-10 OF 495 REFERENCES
    The manifesting carrier in Duchenne muscular dystrophy
    • 146
    Mutation rate in Duchenne type of muscular dystrophy.
    • 86
    • PDF
    Muscular Dystrophy (Duchenne) in a Girl with Turner's Syndrome
    • 58
    • PDF
    The female carrier of Duchenne muscular dystrophy.
    • 22
    • PDF
    Serum enzyme variations and histological abnormalities in the carrier state in Duchenne dystrophy1
    • 51
    • PDF
    Newborn screening for Duchenne muscular dystrophy.
    • 113
    • PDF