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Article

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

11 Nov 1996

Abstract excerpt

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...

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Identifiers

PMID: 8923947
DOI: 10.1002/(sici)1096-8628(19961111)65:4<342::aid-ajmg18>3.0.co;2-u

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Source receipt: pubmed, retrieved 7 Sept 2026.

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