Outdated risk assessment in a family with Duchenne dystrophy: Implications for duty to reassess
نویسندگان
چکیده
Carrier risk assessment for Duchenne muscular dystrophy (DMD) is necessary to counsel women at risks of developing cardiomyopathy and having a child with DMD. Comprehensive molecular testing for dystrophin gene mutations has only been available since 20031; women counseled earlier have outdated risk assessments. We present a 5-generation family in whom results of familial mutation testing for DMD newly identified 10 obligate carriers and 28 women at risk to be carriers for DMD.
منابع مشابه
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عنوان ژورنال:
دوره 2 شماره
صفحات -
تاریخ انتشار 2016