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Abstracts & Posters

Duchenne/Becker Muscular Dystrophy: Advances in reproductive testing options

key information

source: Fertility and Sterility

year: 2016

authors: S. Mundy, J. Wallace, M. Westemeyer, K. Merrion, J. Schmidt, J. Saucier


Duchenne/Becker Muscular Dystrophy (DMD/BMD) is an X-linked recessive disorder associated with progressive limb muscle weakness, atrophy, and cardiac disease in affected males. Approximately two-thirds of diagnosed cases have a carrier mother. Due to the size of the DMD gene, population-based genetic carrier screening for DMD/BMD was previously cost-prohibitive. However, recent advances in genetic testing now make carrier screening for DMD/BMD feasible.

organization: Natera, Inc., USA

DOI: 10.1016/j.fertnstert.2016.07.1058

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