title: An apparently sporadic case of oculopharyngeal muscular dystrophy: the first Italian report.
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.
authors.affiliation: Department of Neurology, University of Milano-Bicocca S. Gerardo Hospital, Via Pergolesi 33, I-20052, Monza (MI), Italy. lucio.tremolizzo@unimib.it
authors.forename: L
authors.initials: L
authors.lastname: Tremolizzo
authors.forename: A
authors.initials: A
authors.lastname: Galbussera
authors.forename: E
authors.initials: E
authors.lastname: Tagliabue
authors.forename: S
authors.initials: S
authors.lastname: Fermi
authors.forename: M
authors.initials: M
authors.lastname: Bruttini
authors.forename: C
authors.initials: C
authors.lastname: Lamperti
authors.forename: M
authors.initials: M
authors.lastname: Moggio
authors.forename: N
authors.initials: N
authors.lastname: Curtò
authors.forename: I
authors.initials: I
authors.lastname: Appollonio
authors.forename: C
authors.initials: C
authors.lastname: Ferrarese
mesh_terms: D000368:Aged; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D006801:Humans; D007558:Italy; D018482:Muscle, Skeletal / Q000473:pathology; D039141:Muscular Dystrophy, Oculopharyngeal / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology*; D039103:Poly(A)-Binding Protein II / Q000235:genetics
chemical_list: D039103:Poly(A)-Binding Protein II