Expansion of the myotonic dystrophy gene in Italian and Spanish patients.
Open Access
- 1 November 1992
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 29 (11) , 789-790
- https://doi.org/10.1136/jmg.29.11.789
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.Keywords
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