Myotonic dystrophy type 2 and related myotonic disorders

Giovanni Meola, Richard T. Moxley

Research output: Contribution to journalArticlepeer-review


The myotonic dystrophies are a group of dominantly inherited disorders characterized by muscle wasting, myotonia, cataracts, hypogonadism and other system manifestations. Myotonic dystrophy type 1 (DM1) results from an unstable expansion of a CTG repeat in 3′ UTR of the DM protein kinase (DMPK) gene on chromosome 19q 13.3. Myotonic dystrophy type 2 (DM2) is caused by an unstable expansion of a CCTG tetraplet repeat in intron 1 of the zinc finger 9 (ZFN9 gene) on chromosome 3q 21.3. However, the clinical diagnosis of DM2 is more complex than that of DM1, and conventional molecular genetic methods used for diagnosis of DM1 are not helpful for DM2. We here describe the detailed clinical, laboratory and biomolecular tests to identify DM2 and related myotonic disorders. At present, foci of accumulated noncoding CCTG repeat RNA (ribonuclear inclusions) in the cell nuclei are thought to interfere with the regulation and expression of several genes at the basis of multisystemic aspects of myotonic dystrophy type 2.

Original languageEnglish
Pages (from-to)1173-1182
Number of pages10
JournalJournal of Neurology
Issue number10
Publication statusPublished - Oct 2004


  • DM1
  • DM2
  • DMPK
  • Myotonic dystrophy type 1
  • Myotonic dystrophy type 2
  • ZFN9

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology


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