Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients.

@article{Braida2010VariantCA,
  title={Variant CCG and GGC repeats within the CTG expansion dramatically modify mutational dynamics and likely contribute toward unusual symptoms in some myotonic dystrophy type 1 patients.},
  author={Claudia Braida and Rhoda K A Stefanatos and Berit Adam and Navdeep Mahajan and Hubert J. M. Smeets and Florence Niel and Cyril Goizet and Beno{\^i}t Arveiler and Michel Koenig and Clotilde Lagier-Tourenne and Jean-Louis Mandel and Catharina G. Faber and Christine E M de Die-Smulders and Frank Spaans and Darren G Monckton},
  journal={Human molecular genetics},
  year={2010},
  volume={19 8},
  pages={1399-412}
}
Myotonic dystrophy type 1 (DM1) is one of the most variable inherited human disorders. It is characterized by the involvement of multiple tissues and is caused by the expansion of a highly unstable CTG repeat. Variation in disease severity is partially accounted for by the number of CTG repeats inherited. However, the basis of the variable tissue-specific symptoms is unknown. We have determined that an unusual Dutch family co-segregating DM1, Charcot-Marie-Tooth neuropathy, encephalopathic… CONTINUE READING

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