E-viri
Recenzirano
-
Garibaldi, Matteo; Pennisi, Elena Maria; Bruttini, Mirella; Bizzarri, Veronica; Bucci, Elisabetta; Morino, Stefania; Talerico, Caterina; Stoppacciaro, Antonella; Renieri, Alessandra; Antonini, Giovanni
Neuromuscular disorders : NMD, 11/2015, Letnik: 25, Številka: 11Journal Article
Highlights • First case of dropped-head in recessive OPMD expanding clinical phenotype. • Eighth case of recessive OPMD worldwide reported and the first one in Italy. • Dropped-head could be an unusual presentation of recessive OPMD. • Later onset and phenotype variability seem to be more frequent in recessive OPMD. • Recessive OPMD could be underdiagnosed.
