Angelini, Corrado; Marozzo, Roberta; Pinzan, Elena; Pegoraro, Valentina; Molnar, Maria Judit; Torella, Annalaura; Nigro, Vincenzo
(2019)
We describe a family with a novel TNPO3 mutation of limb-girdle muscular dystrophy D2 (or LGMD 1F), a rare muscle disorder with autosomal dominant inheritance, first identified in an Italo-Spanish family where the causative ...