(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.
Department of Public Health and Cell Biology, Tor Vergata University, Rome, Italy.
G
G
Novelli
M
M
Gennarelli
E
E
Menegazzo
M L
ML
Mostacciuolo
A
A
Pizzuti
C
C
Fattorini
D
D
Tessarolo
G
G
Tomelleri
M
M
Giacanelli
G A
GA
Danieli
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