Abstract
Duchenne muscular dystrophy (DMD) is an X-linked recessive neuromuscular disorder caused by mutations in the dystrophin gene at Xp21. Approximately two-thirds of the mutations are intragenic deletions of one or more of the 79 exons that constitute the 2.4 Mb dystrophin gene, 5 % are duplications, and the remaining 30% are mutations that are very difficult to identify by current diagnostic screening strategies (1–3). The great majority of deletions can be detected by polymerase chain reaction (PCR) multiplex approach (4,5) or Southern blot analysis probed with dystrophin cDNA (1).
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Dolinsky, L.C.B. (2003). Denaturing Gradient Gel Electrophoresis (DGGE) for Mutation Detection in Duchenne Muscular Dystrophy (DMD). In: Potter, N.T. (eds) Neurogenetics. Methods in Molecular Biology™, vol 217. Springer, Totowa, NJ. https://doi.org/10.1385/1-59259-330-5:165
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DOI: https://doi.org/10.1385/1-59259-330-5:165
Publisher Name: Springer, Totowa, NJ
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