title: Expansion of the myotonic dystrophy gene in Italian and Spanish patients.
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.
authors.affiliation: Department of Human Genetics, Tor Vergata University of Rome, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Melchionda
authors.forename: A
authors.initials: A
authors.lastname: Cobo
authors.forename: M
authors.initials: M
authors.lastname: Gennarelli
authors.forename: L
authors.initials: L
authors.lastname: Martorell
authors.forename: C
authors.initials: C
authors.lastname: Fattorini
authors.forename: M
authors.initials: M
authors.lastname: Baiget
authors.forename: A
authors.initials: A
authors.lastname: Lopez de Munain
authors.forename: K
authors.initials: K
authors.lastname: Johnson
authors.forename: P
authors.initials: P
authors.lastname: Shelbourne
authors.forename: G
authors.initials: G
authors.lastname: Novelli
mesh_terms: D000328:Adult; D000483:Alleles; D004252:DNA Mutational Analysis; D015342:DNA Probes; D005260:Female; D005828:Genetics, Population; D006801:Humans; D007558:Italy; D008297:Male; D009223:Myotonic Dystrophy / Q000235:genetics*; D013030:Spain
chemical_list: D015342:DNA Probes