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

Claudia Braida, Rhoda K. A. Stefanatos, Berit Adam, Navdeep Mahajan, Hubert J. M. Smeets, Florence Niel, Cyril Goizet, Benoit Arveiler, Michel Koenig, Clotilde Lagier-Tourenne, Jean-Louis Mandel, Catharina G. Faber, Christine E. M. de Die-Smulders, Frank Spaans, Darren G. Monckton

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)1399-1412
JournalHuman Molecular Genetics
Volume19
Issue number8
DOIs
Publication statusPublished - 15 Apr 2010

Cite this

Braida, C., Stefanatos, R. K. A., Adam, B., Mahajan, N., Smeets, H. J. M., Niel, F., Goizet, C., Arveiler, B., Koenig, M., Lagier-Tourenne, C., Mandel, J-L., Faber, C. G., de Die-Smulders, C. E. M., Spaans, F., & Monckton, D. G. (2010). 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. Human Molecular Genetics, 19(8), 1399-1412. https://doi.org/10.1093/hmg/ddq015