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.
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An erratum to this article is available at http://dx.doi.org/10.1007/s10072-008-0985-3.
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Tremolizzo, L., Galbussera, A., Tagliabue, E. et al. An apparently sporadic case of oculopharyngeal muscular dystrophy: the first Italian report. Neurol Sci 28, 339–341 (2007). https://doi.org/10.1007/s10072-007-0850-9
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DOI: https://doi.org/10.1007/s10072-007-0850-9