Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis.

@article{Lemmers1998InterAI,
  title={Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis.},
  author={R. Lemmers and S. M. van der Maarel and J. V. van Deutekom and M. V. D. van der Wielen and G. Deidda and H. Dauwerse and J. Hewitt and M. Hofker and E. Bakker and G. Padberg and R. Frants},
  journal={Human molecular genetics},
  year={1998},
  volume={7 8},
  pages={
          1207-14
        }
}
The autosomal dominant myopathy facioscapulohumeral muscular dystrophy (FSHD) is causally related to a short Eco RI fragment detected by probe p13E-11. This remnant fragment is the result of a deletion of an integral number of tandemly arrayed 3.3 kb repeat units (D4Z4) on 4q35. Despite intensive efforts, no transcribed sequences have been identified within this array. Previously, we have shown that these repeats on 4q35 have been exchanged for a similar highly homologous repeat locus on 10q26… Expand
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