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Denaturing HPLC Coupled with Multiplex PCR for Rapid Detection of Large Deletions in Duchenne Muscular Dystrophy Carriers
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Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) affect 1 in 3500 newborn male infants (1). DMD and BMD are both inherited in an X-linked recessive pattern resulting from mutations in the , dystropin gene on Xp21.1. In approximately two-thirds of cases, the disease is inherited from female carriers, and the remaining cases come from de novo mutations in individuals without a family history of muscular dystrophy (2, 3).
Approximately 60% of DMD cases are associated with large intragenic deletions of 1 or more exons in 2 hotspot regions in the proximal and central regions ...
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