title: Prediction of myotonic dystrophy clinical severity based on the number of intragenic [CTG]n trinucleotide repeats.
abstract: 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.
authors.affiliation: Cattedra di Genetica Umana, Università Tor Vergata, Rome, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Gennarelli
authors.forename: G
authors.initials: G
authors.lastname: Novelli
authors.forename: F
authors.initials: F
authors.lastname: Andreasi Bassi
authors.forename: L
authors.initials: L
authors.lastname: Martorell
authors.forename: M
authors.initials: M
authors.lastname: Cornet
authors.forename: E
authors.initials: E
authors.lastname: Menegazzo
authors.forename: M L
authors.initials: ML
authors.lastname: Mostacciuolo
authors.forename: J M
authors.initials: JM
authors.lastname: Martinez
authors.forename: C
authors.initials: C
authors.lastname: Angelini
authors.forename: A
authors.initials: A
authors.lastname: Pizzuti
authors.forename: M
authors.initials: M
authors.lastname: Baiget
authors.forename: B
authors.initials: B
authors.lastname: Dallapiccola
mesh_terms: D018450:Disease Progression; D005260:Female; D006801:Humans; D008297:Male; D009223:Myotonic Dystrophy / Q000235:genetics* / Q000503:physiopathology*; D011237:Predictive Value of Tests; D018911:Trinucleotide Repeats