Genetic mapping of a second myotonic dystrophy locus

@article{Ranum1998GeneticMO,
  title={Genetic mapping of a second myotonic dystrophy locus},
  author={Laura P. W. Ranum and Paul F. Rasmussen and Kellie A. Benzow and Michael Duane Koob and John W. Day},
  journal={Nature Genetics},
  year={1998},
  volume={19},
  pages={196-198}
}
We report the mapping of a second myotonic dystrophy locus, myotonic dystrophy type 2 (DM2). Myotonic dystrophy (DM) is a multi-system disease and the most common form of muscular dystrophy in adults. In 1992, DM was shown to be caused by an expanded CTG repeat in the 3´ untranslated region of the dystrophia myotonica-protein kinase gene (DMPK) on chromosome 19 (refs 2, 3, 4, 5, 6). Although several theories have been put forth to explain how the CTG expansion causes the broad spectrum of… CONTINUE READING