Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy.

@article{Quan1997UniparentalDO,
  title={Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy.},
  author={F. Quan and Jan Janas and Suellen Toth-Fejel and Douglas B. Johnson and Johanna K. Wolford and Bradley W. Popovich},
  journal={American journal of human genetics},
  year={1997},
  volume={60 1},
  pages={160-5}
}
Duchenne muscular dystrophy (DMD) is a severe, progressive, X-linked muscle-wasting disorder with an incidence of approximately 1/3,500 male births. Females are also affected, in rare instances. The manifestation of mild to severe symptoms in female carriers of dystrophin mutations is often the result of the preferential inactivation of the X chromosome carrying the normal dystrophin gene. The severity of the symptoms is dependent on the proportion of cells that have inactivated the normal X… CONTINUE READING

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