An apparently sporadic case of oculopharyngeal muscular dystrophy: the first Italian report.
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.
Tremolizzo
L
L
Department of Neurology, University of Milano-Bicocca S. Gerardo Hospital, Via Pergolesi 33, I-20052, Monza (MI), Italy. lucio.tremolizzo@unimib.it
Galbussera
A
A
Tagliabue
E
E
Fermi
S
S
Bruttini
M
M
Lamperti
C
C
Moggio
M
M
Curtò
N
N
Appollonio
I
I
Ferrarese
C
C
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
D039103:Poly(A)-Binding Protein II