(CTG)n triplet mutation and phenotype manifestations in myotonic dystrophy patients

Biochem Med Metab Biol. 1993 Aug;50(1):85-92. doi: 10.1006/bmmb.1993.1049.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Alleles
  • Base Sequence
  • Child
  • DNA / analysis
  • DNA / metabolism
  • Female
  • Gene Amplification
  • Humans
  • Italy
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Muscle Proteins / genetics
  • Mutation*
  • Myotonic Dystrophy / genetics*
  • Myotonic Dystrophy / pathology
  • Myotonin-Protein Kinase
  • Phenotype*
  • Protein Kinases / genetics
  • Protein-Serine-Threonine Kinases*
  • Repetitive Sequences, Nucleic Acid

Substances

  • DMPK protein, human
  • Muscle Proteins
  • DNA
  • Protein Kinases
  • Myotonin-Protein Kinase
  • Protein-Serine-Threonine Kinases

Grant support