A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates

A missense mutation in the calsequestrin-1 gene (CASQ1) was found in a group of patients with a myopathy characterized by weakness, fatigue and the presence of large vacuoles containing characteristic inclusions resulting from the aggregation of sarcoplasmic reticulum (SR) proteins. The mutation aff...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Rossi, Daniela, Vezzani, Bianca, Galli, Lucia, Paolini, Cecilia, Toniolo, Luana, Pierantozzi, Enrico, Spinozzi, Simone, Barone, Virginia, Pegoraro, Elena, Bello, Luca, Cenacchi, Giovanna, Vattemi, Gaetano, Tomelleri, Giuliano, Ricci, Giulia, Siciliano, Gabriele, Protasi, Feliciano, Reggiani, Carlo, Sorrentino, Vincenzo
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2014
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4177304/
https://ncbi.nlm.nih.gov/pubmed/25116801
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22631
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