Molecular Diagnosis and Genetic Counseling of the Manifesting Carrier of Duchenne Muscular Dystrophy
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The large majority of female carriers (heterozygotes) of Duchenne or Becker muscular dystrophies (DMD/BMD) show no overt clinical symptoms. Although most carriers have been reported to have heart abnormalities by imaging technologies (echocardiography), the majority of female carriers do not show overt cardiac dysfunction (1 –3 ).
