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Prediction of myotonic dystrophy clinical severity based on the number of intragenic [CTG]n trinucleotide repeats

✍ Scribed by Gennarelli, M.; Novelli F., G.; Bassi, Andreasi; Martorell, L.; Cornet, M.; Menegazzo, E.; Mostacciuolo, M.L.; Martinez, J.M.; Angelini, C.; Pizzuti, A.; Baiget, M.; Dallapiccola, B.

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 637 KB
Volume: 65
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19961111)65:4<342::aid-ajmg18>3.0.co;2-u

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✦ Synopsis

W e 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 [CTGI number. This study demonstrates that measurement of triplet expansions in patients' lymphocyte DNA is highly valuable and accurate for prognostic assessment. 0

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✍ Mor-Cohen, Ronit; Magal, Nurit; Gadoth, Nathan; Shohat, Tamar; Shohat, Mordechai 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 19 KB 👁 2 views

Myotonic dystrophy (DM) is associated with an increased number of CTG repeats in the 3 untranslated region of the myotonin gene. Because DM has been observed less frequently in Ashkenazic Jews and non-Jews than in North African and Yemenite Jews in Israel, a study of the CTG repeat polymorphism was