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

@article{Gennarelli1996PredictionOM,
  title={Prediction of myotonic dystrophy clinical severity based on the number of intragenic [CTG]n trinucleotide repeats.},
  author={Massimo Gennarelli and Giuseppe Novelli and F Andreasi Bassi and L Martorell and M{\'o}nica Cornet and Elisa Menegazzo and M L Mostacciuolo and J M Garc{\'i}a Mart{\'i}nez and Corrado I. Angelini and A. Pizzuti and Montserrat Baiget and Bruno Dallapiccola},
  journal={American journal of medical genetics},
  year={1996},
  volume={65 4},
  pages={342-7}
}
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… CONTINUE READING

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