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Recenzirano
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Tremolizzo, L; Galbussera, A; Tagliabue, E; Fermi, S; Bruttini, M; Lamperti, C; Moggio, M; Curtò, N; Appollonio, I; Ferrarese, C
Neurological sciences 28, Številka: 6Journal Article
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.
