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Quality Assurance for Duchenne and Becker Muscular Dystrophy Genetic Testing
2011
Journal of Molecular Diagnostics
Duchenne and Becker muscular dystrophies (DMD/ BMD) are allelic X-linked recessive disorders that affect approximately 1 in 3500 and 1 in 20,000 male individuals, respectively. Approximately 65% of patients with DMD have deletions, 7% to 10% have duplications, and 25% to 30% have point mutations in one or more of the 79 exons of the dystrophin gene. Most clinical genetics laboratories test for deletions, and some use technologies that can detect smaller mutations and duplications. Reference and
doi:10.1016/j.jmoldx.2010.11.018
pmid:21354051
pmcid:PMC3128550
fatcat:f6rx4g76nzdt7ag5xrld5btbqe