Myotonic dystrophy type 2

@article{Day2003MyotonicDT,
  title={Myotonic dystrophy type 2},
  author={J. Day and K. Ricker and J. Jacobsen and L. J. Rasmussen and K. A. Dick and W. Kress and C. Schneider and M. Koch and G. Beilman and A. Harrison and J. Dalton and L. Ranum},
  journal={Neurology},
  year={2003},
  volume={60},
  pages={657 - 664}
}
  • J. Day, K. Ricker, +9 authors L. Ranum
  • Published 2003
  • Biology, Medicine
  • Neurology
  • Background: Myotonic dystrophy types 1 (DM1) and 2 (DM2/proximal myotonic myopathy PROMM) are dominantly inherited disorders with unusual multisystemic clinical features. The authors have characterized the clinical and molecular features of DM2/PROMM, which is caused by a CCTG repeat expansion in intron 1 of the zinc finger protein 9 (ZNF9) gene. Methods: Three-hundred and seventy-nine individuals from 133 DM2/PROMM families were evaluated genetically, and in 234 individuals clinical and… CONTINUE READING
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