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Research Article
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.

    https://doi.org/10.1136/jmg.29.11.789

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