Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm.

@article{Jansen1994GonosomalMI,
  title={Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm.},
  author={Gerrit Jansen and P P Willems and Marga M Coerwinkel and Willy M. Nillesen and Hubert J. M. Smeets and Lieve Vits and Chris J H{\"o}weler and Han G. Brunner and B. Wieringa},
  journal={American journal of human genetics},
  year={1994},
  volume={54 4},
  pages={575-85}
}
Myotonic dystrophy (DM) is caused by abnormal expansion of a polymorphic (CTG)n repeat, located in the DM protein kinase gene. We determined the (CTG)n repeat lengths in a broad range of tissue DNAs from patients with mild, classical, or congenital manifestation of DM. Differences in the repeat length were seen in somatic tissues from single DM individuals and twins. Repeats appeared to expand to a similar extent in tissues originating from the same embryonal origin. In most male patients… CONTINUE READING

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