Duchenne muscular dystrophy and dystrophin: pathogenesis . Jun 07, 2004 · Introduction. Duchenne muscular dystrophy (DMD OMIM 310200) is an Xlinked recessive disorder that affects 1 in 3,500 males and is caused by mutations in the dystrophin gene (Blake et al, 2002).The gene is the largest in the human genome, encompassing 2.6 million base pairs of DNA and containing 79 exons.
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