Splicing biomarkers of disease severity in myotonic dystrophy.

@article{Nakamori2013SplicingBO,
  title={Splicing biomarkers of disease severity in myotonic dystrophy.},
  author={Masayuki Nakamori and Krzysztof Sobczak and Araya Puwanant and Steve Welle and Katy J Eichinger and Shree Pandya and Jeannne Dekdebrun and Chad R. Heatwole and Michael P. Mcdermott and Tian Chen and Melissa Jaclyn Cline and Rawan Tawil and Robert J. Osborne and Thurman M. Wheeler and Maurice S. Swanson and Richard T. Moxley and Charles A. Thornton},
  journal={Annals of neurology},
  year={2013},
  volume={74 6},
  pages={
          862-72
        }
}
OBJECTIVE To develop RNA splicing biomarkers of disease severity and therapeutic response in myotonic dystrophy type 1 (DM1) and type 2 (DM2). METHODS In a discovery cohort, we used microarrays to perform global analysis of alternative splicing in DM1 and DM2. The newly identified splicing changes were combined with previous data to create a panel of 50 putative splicing defects. In a validation cohort of 50 DM1 subjects, we measured the strength of ankle dorsiflexion (ADF) and then obtained… CONTINUE READING
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