Myotonic Dystrophy Type 2 Caused by a CCTG Expansion in Intron 1 of ZNF9

@article{Liquori2001MyotonicDT,
  title={Myotonic Dystrophy Type 2 Caused by a CCTG Expansion in Intron 1 of ZNF9},
  author={C. Liquori and K. Ricker and M. Moseley and J. Jacobsen and W. Kress and S. Naylor and J. Day and L. Ranum},
  journal={Science},
  year={2001},
  volume={293},
  pages={864 - 867}
}
  • C. Liquori, K. Ricker, +5 authors L. Ranum
  • Published 2001
  • Biology, Medicine
  • Science
  • Myotonic dystrophy (DM), the most common form of muscular dystrophy in adults, can be caused by a mutation on either chromosome 19q13 (DM1) or 3q21 (DM2/PROMM). DM1 is caused by a CTG expansion in the 3′ untranslated region of the dystrophia myotonica–protein kinase gene (DMPK). Several mechanisms have been invoked to explain how this mutation, which does not alter the protein-coding portion of a gene, causes the specific constellation of clinical features characteristic of DM. We now report… CONTINUE READING
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