Female carriers of mutations associated with Duchenne (DMD) and Becker (BMD) muscular dystrophies are typically considered unaffected. However, different degrees of symptomatic carriers have been reported. Through an observational, prospective, cross-sectional study, female carriers of a DMD mutation were examined to investigate the frequency and extent of heart and muscle involvement. Genetically verified female carriers of a DMD mutation were examined by Magnetic Resonance Imaging (MRI) of the heart and the lower extremity muscles, by isokinetic muscle dynamometry of legs, echocardiography, 24-h Holter monitoring, ECG and blood concentrations of creatine kinase (CK) and cardiac biomarkers.

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