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...

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Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: 2014
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Article
Accès en ligne: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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