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. 1992 Nov;29(11):789–790. doi: 10.1136/jmg.29.11.789

Expansion of the myotonic dystrophy gene in Italian and Spanish patients.

S Melchionda 1, A Cobo 1, M Gennarelli 1, L Martorell 1, C Fattorini 1, M Baiget 1, A Lopez de Munain 1, K Johnson 1, P Shelbourne 1, G Novelli 1, et al.
PMCID: PMC1016172  PMID: 1453428

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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