Skip to content


Open Access

Myotonic expansion

  • Jonathan B Weitzman
Genome Biology20012:spotlight-20010806-03

Published: 06 August 2001


ZincUntranslated RegionZinc FingerChromosome 13q21Muscular Dystrophy

Myotonic dystrophy (DM) is the most common form of adult muscular dystrophy. DM Type 1 caused by expansion of a CTG repeat in the 3' untranslated region of the dystrophia myotonica-protein kinase (DMPK) gene. In the August 3 Science, Christina Liquori and colleagues from the University of Minnesota report that DM2 is also caused by microsatellite expansion in non-coding sequences (Science 2001, 293:864-867). While characterizing the DM2 locus on chromosome 13q21, Liquori et al. discovered an expansion ranging from 10 to 48 kilobases in DM2 patients. The expansions consisted of 75-11,000 CCTG repeats. The expansion lies within intron 1 of the zinc finger protein 9 (ZNF9) gene. It will be important to understand how both these microsatellite repeat expansions contribute to the pathology of DM diseases.


  1. Dystrophia Myotonica 1, []
  2. Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the geneGoogle Scholar
  3. An unstable triplet repeat in a gene related to myotonic muscular dystrophy.Google Scholar
  4. Science, []
  5. University of Minnesota , []
  6. Dystrophia Myotonica 2, []
  7. Identification of a zinc finger protein that binds to the sterol regulatory element.Google Scholar


© BioMed Central Ltd 2001