Co-occurrence of mutations in both dystrophin- and androgen-receptor genes is a novel cause of female Duchenne muscular dystrophy

Hum Genet. 2006 Jun;119(5):516-9. doi: 10.1007/s00439-006-0159-4. Epub 2006 Mar 10.


Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder. Here, we report a novel mechanism for the occurrence of DMD in females. In a Vietnamese DMD girl, conventional PCR amplification analysis disclosed a deletion of exons 12-19 of the dystrophin gene on Xp21.2, with a karyotype of 46, XY. Furthermore, a novel mutation in the androgen-receptor gene on Xq11.2-q12 was identified in this girl, which led to male pseudohermaphroditism. Co-occurrence of mutations of these two genes constitutes a novel mechanism underlying female DMD.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Child
  • Disorders of Sex Development / genetics
  • Dystrophin / genetics*
  • Female
  • Humans
  • Male
  • Muscular Dystrophy, Duchenne / genetics*
  • Mutation*
  • Receptors, Androgen / genetics*


  • AR protein, human
  • Dystrophin
  • Receptors, Androgen