Prediction of myotonic dystrophy clinical severity based on the number of intragenic [CTG]n trinucleotide repeats.
We carried out a genotype-phenotype correlation study, based on clinical findings in 465 patients with myotonic dystrophy (DM), in order to assess [CTG] repeat number as a predictive test of disease severity. Our analysis showed that the DM subtypes defined by strict clinical criteria fall into three different classes with a log-normal distribution. This distribution is useful in predicting the probability of specific DM phenotypes based on triplet [CTG] number. This study demonstrates that measurement of triplet expansions in patients' lymphocyte DNA is highly valuable and accurate for prognostic assessment.
Gennarelli
M
M
Cattedra di Genetica Umana, Università Tor Vergata, Rome, Italy.
Novelli
G
G
Andreasi Bassi
F
F
Martorell
L
L
Cornet
M
M
Menegazzo
E
E
Mostacciuolo
M L
ML
Martinez
J M
JM
Angelini
C
C
Pizzuti
A
A
Baiget
M
M
Dallapiccola
B
B
D018450:Disease Progression; D005260:Female; D006801:Humans; D008297:Male; D009223:Myotonic Dystrophy / Q000235:genetics* / Q000503:physiopathology*; D011237:Predictive Value of Tests; D018911:Trinucleotide Repeats