Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing.

@article{CharletB2002LossOT,
  title={Loss of the muscle-specific chloride channel in type 1 myotonic dystrophy due to misregulated alternative splicing.},
  author={Nicolas Charlet-B and Rajesh S Savkur and Gopal Singh and Anne V. Philips and Elizabeth A. Grice and Thomas A Cooper},
  journal={Molecular cell},
  year={2002},
  volume={10 1},
  pages={45-53}
}
Myotonic dystrophy type 1 (DM1) is a dominant multisystemic disorder caused by a CTG expansion in the 3' untranslated region of the DMPK gene. A predominant characteristic of DM1 is myotonia resulting from skeletal muscle membrane hyperexcitability. Here we demonstrate loss of the muscle-specific chloride channel (ClC-1) mRNA and protein in DM1 skeletal muscle tissue due to aberrant splicing of the ClC-1 pre-mRNA. The splicing regulator, CUG binding protein (CUG-BP), which is elevated in DM1… CONTINUE READING

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