(CTG)n triplet mutation and phenotype manifestations in myotonic dystrophy patients.
A genotype-phenotype study based on the primary clinical features of adult myotonic dystrophy (DM) included 116 patients from 62 Italian pedigrees. A significant correlation between clinical severity and the number of repeats at the 3' untranslated region of the myotonin-protein kinase gene (MT-PK) was found. These results suggest that the CTG amplification is directly related to the myotonic dystrophy phenotype and provide important information on morbidity and prognosis in this disease.
Novelli
G
G
Department of Public Health and Cell Biology, Tor Vergata University, Rome, Italy.
Gennarelli
M
M
Menegazzo
E
E
Mostacciuolo
M L
ML
Pizzuti
A
A
Fattorini
C
C
Tessarolo
D
D
Tomelleri
G
G
Giacanelli
M
M
Danieli
G A
GA
D000293:Adolescent; D000328:Adult; D000483:Alleles; D001483:Base Sequence; D002648:Child; D004247:DNA / Q000032:analysis / Q000378:metabolism; D005260:Female; D005784:Gene Amplification; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009124:Muscle Proteins / Q000235:genetics; D009154:Mutation; D009223:Myotonic Dystrophy / Q000235:genetics* / Q000473:pathology; D065636:Myotonin-Protein Kinase; D010641:Phenotype; D011494:Protein Kinases / Q000235:genetics; D017346:Protein Serine-Threonine Kinases; D012091:Repetitive Sequences, Nucleic Acid
C585517:DMPK protein, human; D009124:Muscle Proteins; D004247:DNA; D011494:Protein Kinases; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases