Key result
Familial mutation testing for Duchenne muscular dystrophy in a 5-generation family newly identified 10 obligate carriers and 28 women at risk to be carriers.
Case Report (n=38)
Comprehensive molecular testing is essential to update carrier risk assessments for women in DMD families, impacting their cardiomyopathy risk management.
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molecular testing for dystrophin gene mutations has only been available since 20031; women counseled earlier have outdated risk assessments.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.
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Bogue et al. (2016) conducted a case report in Duchenne muscular dystrophy (DMD) carrier risk (n=38). Familial mutation testing for DMD was evaluated on Identification of DMD carriers. Familial mutation testing for Duchenne muscular dystrophy in a 5-generation family newly identified 10 obligate carriers and 28 women at risk to be carriers.
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