Prediction of Myotonic Dystrophy Clinical Severity Based on the Number of Intragenic [CTG]n Trinucleotide Repeats

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

Research output: Contribution to journalArticle

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 denned 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 pheno-types 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.

Original languageEnglish
Pages (from-to)342-347
Number of pages6
JournalAmerican Journal of Medical Genetics, Part C: Seminars in Medical Genetics
Volume65
Issue number4
Publication statusPublished - Nov 11 1996

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Keywords

  • [CTG] repeat
  • DNA
  • Myotonic dystrophy
  • Predictive diagnosis

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuropsychology and Physiological Psychology
  • Neuroscience(all)

Cite this

Gennarelli, M., Novelli, G., Andreasi Bassi, F., Martorell, L., Cornet, M., Menegazzo, E., Mostacciuolo, M. L., Martinez, J. M., Angelini, C., Pizzuti, A., Baiget, M., & Dallapiccola, B. (1996). Prediction of Myotonic Dystrophy Clinical Severity Based on the Number of Intragenic [CTG]n Trinucleotide Repeats. American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 65(4), 342-347.