Publication
Identification and characterization of three novel mutations in the CASQ1
gene in four patients with tubular aggregate myopathy
Virginia Barone, Valeria Del Re, Alessandra Gamberucci, Valentina Polverino, Lucia Galli, Daniela Rossi, Elisa Costanzi, Luana Toniolo, Gianna Berti, Alessandro Malandrini, Giulia Ricci, Gabriele Siciliano, Gaetano Vattemi, Giuliano Tomelleri, Enrico Pierantozzi, Simone Spinozzi, Nila Volpi, Rosella Fulceri, Roberto Battistutta, Carlo Reggiani, Vincenzo Sorrentino
Human Mutation, September 2017, Wiley
DOI: 10.1002/humu.23338