Focus The dynamic genomics of myotonic dystrophy and its clinical relevance: an overview

G. Novelli, M. Gennarelli, C. Fattorini, C. Abbruzzese, B. Dallapiccola

Research output: Contribution to journalArticlepeer-review

Abstract

The cloning of the myotonic dystrophy gene has explained the unique inheritance characteristics of this disease (anticipation, incomplete penetrance, variable expressivity) and has confirmed genomic instability as a mechanism of human diseases.

Original languageEnglish
Pages (from-to)321-330
Number of pages10
JournalBiomedicine and Pharmacotherapy
Volume47
Issue number8
DOIs
Publication statusPublished - 1993

Keywords

  • anticipation
  • MT-PK
  • Myotonic dystrophy
  • myotonin protein kinase

ASJC Scopus subject areas

  • Pharmacology

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