Aggiornamenti nella diagnosi della distrofia miotonica

G. Antonini, E. Bucci, F. Gragnani, V. Ceschin, M. Gennarelli

Research output: Contribution to journalArticle

Abstract

Myotonic dystrophy (DM; OMIM 160900) is the most common genetically transmitted neuromuscular disorder in adults. It is an autosomal dominant multisystemic disease characterized by myotonia and progressive muscle weakness. The mutation is an expansion of an unstable cytosine-thymine-guanine (CTG) trinucleotide repeat in the 3′ untranslated region of the DMPK gene in chromosome 19q13.3. In recent years, some autosomal dominant multisystemic disorders similar to DM without CTG repeat expansion at the DM locus (PROMM, PDM, DM2) have been described. In conclusion, recent genetic findings and clinical observations have highlighted a genetic and phenotypic heterogeneity in myotonic myopathies which has led to the updated nomenclature of multisystemic disorders presented in this paper.

Original languagePortuguese
Pages (from-to)179-182
Number of pages4
JournalGiornale di Neuropsicofarmacologia
Volume22
Issue number6
Publication statusPublished - 2000

Keywords

  • CTG expansion
  • Molecular diagnosis
  • Myotonic dystrophy

ASJC Scopus subject areas

  • Neuroscience(all)
  • Pharmaceutical Science
  • Pharmacology
  • Neuropsychology and Physiological Psychology

Cite this

Antonini, G., Bucci, E., Gragnani, F., Ceschin, V., & Gennarelli, M. (2000). Aggiornamenti nella diagnosi della distrofia miotonica. Giornale di Neuropsicofarmacologia, 22(6), 179-182.