| 1 | CASQ1, VMCQA |
| A Calsequestrin-1 Mutation Associated with a Skeletal Muscle Disease Alters Sarcoplasmic Ca2+ Release. | |
| D'Adamo MC, Sforna L, Visentin S, Grottesi A, Servettini L, Guglielmi L, Macchioni L, Saredi S, Curcio M, De Nuccio C, Hasan S, Corazzi L, Franciolini F, Mora M, Catacuzzeno L, Pessia M. | |
| PLoS One 11(5):e0155516. doi: 10.1371/journal.pone.0155516. eCollection 2016. 2016 | |
| 2 | CASQ1, VMCQA |
| A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates. | |
| Rossi D, Vezzani B, Galli L, Paolini C, Toniolo L, Pierantozzi E, Spinozzi S, Barone V, Pegoraro E, Bello L, Cenacchi G, Vattemi G, Tomelleri G, Ricci G, Siciliano G, Protasi F, Reggiani C, Sorrentino V. | |
| Hum Mutat 35(10):1163-70. doi: 10.1002/humu.22631. Epub 2014 Sep 10. 2014 | |