Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions.

@article{Francke1987CongenitalAH,
  title={Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions.},
  author={Uta Francke and Jeffrey F. Harper and Basil T. Darras and Janet M. Cowan and E. R. B. McCabe and A Kohlsch{\"u}tter and William K. Seltzer and Fumiko Saito and Jun Goto and Jean Paul Harpey},
  journal={American journal of human genetics},
  year={1987},
  volume={40 3},
  pages={212-27}
}
Glycerol kinase deficiency (GKD) is an X-linked recessive trait that occurs in association with congenital adrenal hypoplasia (AH) and developmental delay with or without congenital dystrophic myopathy. Several such patients have recently been reported to have cytological deletions of chromosome region Xp21 and/or of DNA markers that map near the locus for Duchenne muscular dystrophy (DMD) in band Xp21. We have examined the initial family reported in the literature and, using prometaphase… CONTINUE READING

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