Article Text

Download PDFPDF
Expansion of the myotonic dystrophy gene in Italian and Spanish patients.
  1. S Melchionda,
  2. A Cobo,
  3. M Gennarelli,
  4. L Martorell,
  5. C Fattorini,
  6. M Baiget,
  7. A Lopez de Munain,
  8. K Johnson,
  9. P Shelbourne,
  10. G Novelli
  1. Department of Human Genetics, Tor Vergata University of Rome, Italy.

    Abstract

    Myotonic dystrophy results from expansion of a (CTG)n repeat at the 3' untranslated region of the myotonin-protein kinase gene. We show here the genomic analysis of 322 symptomatic patients with the cDNA-25 probe detecting disease specific EcoRI restriction fragments. The expansion was found in the majority of Italian and Spanish patients (92%). The implications of these results for the detection of symptomatic patients in southern Europe are discussed.

    Statistics from Altmetric.com

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.