Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM).

@article{Brunner1993InfluenceOS,
  title={Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM).},
  author={Han G. Brunner and Hennie T. Br{\"u}ggenwirth and Willy M. Nillesen and Gerrit Jansen and Ben C J Hamel and Richard Hoppe and C E de Die and Chris J H{\"o}weler and Bernard A. van Oost and B. Wieringa},
  journal={American journal of human genetics},
  year={1993},
  volume={53 5},
  pages={1016-23}
}
In patients with myotonic dystrophy (DM), the severity of clinical signs is correlated with the length of a (CTG)n trinucleotide repeat sequence. This sequence tends to expand in subsequent generations. In order to examine the kinetics of this process and, in particular, the influence of the mutant-allele size and the sex of the transmitting parent, we have studied (CTG)n repeat lengths in the offspring of 38 healthy carriers with small mutations (less than 100 CTG trinucleotides, mean length… CONTINUE READING

From This Paper

Topics from this paper.

Citations

Publications citing this paper.
Showing 1-10 of 28 extracted citations

Clinical aspects, molecular pathomechanisms and management of myotonic dystrophies

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology • 2013

Similar Papers

Loading similar papers…