Expansion of the myotonic dystrophy gene in Italian and Spanish patients

Salvatore Melchionda, Ana Cobo, Massimo Gennarelli, Loreto Martorell, Cristina Fattorini, Montserrat Baiget, Adolfe Lopez De Munain, Keith Johnson, Peggy Shelbourne, Giuseppe Novelli, Bruno Dallapiccola

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)789-790
Number of pages2
JournalJournal of Medical Genetics
Volume29
Issue number11
Publication statusPublished - 1992

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)
  • Public Health, Environmental and Occupational Health
  • Health(social science)

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    Melchionda, S., Cobo, A., Gennarelli, M., Martorell, L., Fattorini, C., Baiget, M., Lopez De Munain, A., Johnson, K., Shelbourne, P., Novelli, G., & Dallapiccola, B. (1992). Expansion of the myotonic dystrophy gene in Italian and Spanish patients. Journal of Medical Genetics, 29(11), 789-790.