Postzygotic instability of the myotonic dystrophy p[AGC]n repeat supported by larger expansions in muscle and reduced amplifications in sperm

Antonella Massari, Massimo Gennarelli, Elisa Menegazzo, Antonio Pizzuti, Vincenzo Silani, Ismaele Mastrogiacomo, Enzo Pagani, Corrado Angelini, Guglielmo Scarlato, Giuseppe Novelli, Bruno Dallapiccola

Research output: Contribution to journalArticle

Abstract

We have analysed the [AGC] expansion in leucocytes, muscle and sperm from 17 individuals affected by myotonic dystrophy (DM). Skeletal muscle showed a larger repeat number than leucocytes in the same patient. A similar degree of expansion was detected in differently affected muscles of a single patient. The germline mutation (≤ 350 repeats) was expanded in somatic cells of the progeny in all patients examined. Our results provide evidence of an early postzygotic instability of the [AGC] repeat in DM.

Original languageEnglish
Pages (from-to)379-383
Number of pages5
JournalJournal of Neurology
Volume242
Issue number6
DOIs
Publication statusPublished - Jun 1995

Keywords

  • Germline mutation
  • Myotonic dystrophy
  • p[AGC]n repeat
  • Somatic mosaicism

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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