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Neurol Sci. 2007 Dec;28(6):339-41. doi: 10.1007/s10072-007-0850-9. Epub 2008 Jan 4.

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

Author information

1
Department of Neurology, University of Milano-Bicocca S. Gerardo Hospital, Via Pergolesi 33, I-20052, Monza (MI), Italy. lucio.tremolizzo@unimib.it

Erratum in

  • Neurol Sci. 2008 Sep;29(4):291. Curtò, N [added].

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.

PMID:
18175083
DOI:
10.1007/s10072-007-0850-9
[Indexed for MEDLINE]

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