Misregulation of alternative splicing causes pathogenesis in myotonic dystrophy.

@article{KuyumcuMartinez2006MisregulationOA,
  title={Misregulation of alternative splicing causes pathogenesis in myotonic dystrophy.},
  author={N. Muge Kuyumcu-Martinez and Thomas A Cooper},
  journal={Progress in molecular and subcellular biology},
  year={2006},
  volume={44},
  pages={133-59}
}
Myotonic dystrophy (DM), the most common form of adult onset muscular dystrophy, affects skeletal muscle, heart, and the central nervous system (CNS). Mortality results primarily from muscle wasting and cardiac arrhythmias. There are two forms of the disease: DM1 and DM2. DM1, which constitutes 98% of cases, is caused by a CTG expansion in the 3' untranslated region (UTR) of the DMPK gene. DM2 is caused by a CCTG expansion in the first intron of the ZNF9 gene. RNA containing CUG- or CCUG… CONTINUE READING

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