(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


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
Issue number1
Publication statusPublished - Aug 1993

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry


Dive into the research topics of '(CTG)n Triplet Mutation and Phenotype Manifestations in Myotonic Dystrophy Patients'. Together they form a unique fingerprint.

Cite this