Back to matchesWe found a matchYour institution may have access to this item. Find your institution then sign in to continue.TitleIdentification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathy.AuthorsBarone, Virginia; Del Re, Valeria; Gamberucci, Alessandra; Polverino, Valentina; Galli, Lucia; Rossi, Daniela; Costanzi, Elisa; Toniolo, Luana; Berti, Gianna; Malandrini, Alessandro; Ricci, Giulia; Siciliano, Gabriele; Vattemi, Gaetano; Tomelleri, Giuliano; Pierantozzi, Enrico; Spinozzi, Simone; Volpi, Nila; Fulceri, Rosella; Battistutta, Roberto; Reggiani, CarloPublicationHuman Mutation, 2017, Vol 38, Issue 12, p1761ISSN1059-7794Publication typeArticleDOI10.1002/humu.23338