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What Does Dystrophin Do In Normal Muscle?

J. Lansman, A. Franco
Published 2005 · Biology, Medicine

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Received 15 April 1991 Duchenne muscular dystrophy is one of the most common inherited human diseases. Certain facts, however, are now abundantly clear about ifs origin. The gene is located af the Xp21 locus and is subject fo numerous mutations including point mutations, rearrangements, insertions, and deletions (reviewed by Hoffman & Kunkel, 1989). The gene occupies roughly 0.1% of the entire human genome, spanning 2.5 x 106 base pairs. Dystrophin, the product of the gene, is normally expressed af ifs highest levels in skeletal muscle and is absent or reduced in those afflicted with the disease (Hoffman et
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