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dystrophin |
Also found in: Acronyms, Wikipedia | 0.07 sec. |
Dystrophin A protein that helps muscle tissue repair itself. Both DMD and BMD are caused by flaws in the gene that instructs the body how to make this protein. Mentioned in: Muscular Dystrophy dystrophin [distrof′in] a missing or defective protein in Duchenne muscular dystrophy that is localized to the sarcolemma of the muscle cell membrane. Its absence results in abnormal cell permeability, which may lead to cell destruction. dystrophin a membrane-associated protein, deficient in some types of muscular dystrophy. How to thank TFD for its existence? Tell a friend about us, add a link to this page, add the site to iGoogle, or visit webmaster's page for free fun content. |
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Since the cloning of the dystrophin gene in the 1980s, (2,3) the identification of its protein product, dystrophin, (4) the complex it forms in muscle, (5) and the mapping of mutations linking several MDs to dystrophin and its associated proteins, we now know a great deal about the genetic basis of these diseases. To the genome of a virus that doesn't trigger an immune response or replicate in mice or people, the researchers added the dystrophin gene, the faulty version of which causes Duchenne muscular dystrophy. After four to six weeks, the muscle will be biopsied and examined for molecular evidence of dystrophin production, representing a positive end point. |
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