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.
|Number of pages||2|
|Journal||Journal of Medical Genetics|
|Publication status||Published - 1992|
ASJC Scopus subject areas
- Public Health, Environmental and Occupational Health
- Health(social science)