Why the study?
The study aimed to determine the genetic status of manifesting carriers and asymptomatic carriers of DMD/BMD, and to identify simple and reliable methods for screening dystrophinopathy carriers.
Does serum creatine kinase measurement combined with genetic testing accurately identify female carriers of Duchenne and Becker muscular dystrophy?
Population
154 females, including probable carriers and manifesting carriers of DMD/BMD
Comparison
Manifesting carriers vs asymptomatic carriers vs non-carriers
Design
Observational cohort study
Authors
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CK may support noninvasive carrier screening in DMD/BMD families; leaves open prospective validation with genetic testing.
Does serum creatine kinase measurement combined with genetic testing accurately identify female carriers of Duchenne and Becker muscular dystrophy?
Serum creatine kinase measurement is a highly specific, non-invasive screening tool for identifying female carriers of Duchenne and Becker muscular dystrophy, which can be confirmed with targeted genetic testing.
Zhong et al. (2019) studied this question.
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