An apparently sporadic case of oculopharyngeal muscular dystrophy: The first Italian report

Lucio Tremolizzo, A. Galbussera, E. Tagliabue, S. Fermi, M. Bruttini, C. Lamperti, M. Moggio, I. Appollonio, C. Ferrarese

Research output: Contribution to journalArticlepeer-review

Abstract

Here we report the case of a 73-year-old Italian woman affected by genetically confirmed oculopharyngeal muscular dystrophy (OPMD) with a negative family history. As OPMD is usually transmitted as an autosomal-dominant meiotically stable trait, this case allows us to suggest that putative de novo OPMD mutations might occur more frequently than previously thought; moreover, when compatible with a proper clinical phenotype, OPMD might be included in the differential diagnosis even in the absence of a positive family history.

Original languageEnglish
Pages (from-to)339-341
Number of pages3
JournalNeurological Sciences
Volume28
Issue number6
DOIs
Publication statusPublished - Sep 2007

Keywords

  • De novo mutation
  • Oculopharyngeal muscular dystrophy
  • PABPN1
  • Sporadic

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

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