clinical features in female carriers
Last reviewed 01/2018
Dystrophin mutations may have clinically detectable effects on female carriers. The most common feature is a proximal myopathy, which may be severe. Mild abnormalities are seen on muscle biopsy, EMG or CK measurement in over 80% of carriers.
Females may be severely affected because:
- they have an XO genotype (Turner's syndrome)
- Lyonisation results in asymetrical X chromosome inactivation