(CTG)n Triplet Mutation and Phenotype Manifestations in Myotonic Dystrophy Patients

G. Novelli, M. Gennarelli, E. Menegazzo, M. L. Mostacciuolo, A. Pizzuti, C. Fattorini, D. Tessarolo, G. Tomelleri, M. Giacanelli, G. A. Danieli, N. Rizzuto, C. T. Caskey, C. Angelini, B. Dallapiccola

Research output: Contribution to journalArticlepeer-review

Abstract

A genotype-phenotype study based on the primary clinical features of adult myotonic dystrophy (DM) included 116 patients from 62 Italian pedigrees. A significant correlation between clinical severity and the number of repeats at the 3′ untranslated region of the myotonin-protein kinase gene (MT-PK) was found. These results suggest that the CTG amplification is directly related to the myotonic dystrophy phenotype and provide important information on morbidity and prognosis in this disease.

Original languageEnglish
Pages (from-to)85-92
Number of pages8
JournalBiochemical Medicine and Metabolic Biology
Volume50
Issue number1
DOIs
Publication statusPublished - Aug 1993

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry

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