Expansion of the myotonic dystrophy gene in Italian and Spanish patients.
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.
Melchionda
S
S
Department of Human Genetics, Tor Vergata University of Rome, Italy.
Cobo
A
A
Gennarelli
M
M
Martorell
L
L
Fattorini
C
C
Baiget
M
M
Lopez de Munain
A
A
Johnson
K
K
Shelbourne
P
P
Novelli
G
G
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
D015342:DNA Probes