FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit.

@article{Deutekom1993FSHDAD,
  title={FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit.},
  author={Judith C. T. van Deutekom and Cisca Wijmenga and E A E van Tienhoven and A M Gruter and Jane E. Hewitt and George W. Padberg and Gertjan JB van Ommen and Marten H. Hofker and Rune R. Frants},
  journal={Human molecular genetics},
  year={1993},
  volume={2 12},
  pages={2037-42}
}
Facioscapulohumeral muscular dystrophy (FSHD) is a neuromuscular disorder characterized by progressive weakness of the facial, shoulder and upper arm muscles. The disease is associated with DNA rearrangements which are detectable using probe p13E-11 (D4F104S1) in DNA digested with EcoRI or other restriction enzymes. We have cloned and characterized the rearranged EcoRI fragment of four unrelated FSHD patients. Restriction fragment mapping and DNA sequence analysis showed that the proximal and… CONTINUE READING