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

doi:10.1136/jmg.29.11.789

Article

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

Journal of medical genetics - 1 Nov 1992

Melchionda S, Cobo A, Gennarelli M, Martorell L, Fattorini C, Baiget M, Lopez de Munain A, Johnson K, Shelbourne P, Novelli G

Abstract excerpt

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 t...

Topics

Adult
Alleles
DNA Mutational Analysis
DNA Probes
Female
Genetics, Population
Humans
Italy
Male
Myotonic Dystrophy
Spain

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