Article
Quality assurance for Duchenne and Becker muscular dystrophy genetic testing: development of a genomic DNA reference material panel.
The Journal of molecular diagnostics : JMD - 1 Mar 2011
Kalman Lisa, Leonard Jay, Gerry Norman, Tarleton Jack, Bridges Christina, Gastier-Foster Julie M, Pyatt Robert E, Stonerock Eileen, Johnson Monique A, Richards C Sue, Schrijver Iris, Ma Tianhui, Miller Vanessa Rangel, Adadevoh Yetsa, Furlong Pat, Beiswanger Christine, Toji Lorraine
Abstract excerpt
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...
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