A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates.
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| Description | scientific article |
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author: Luca Bello Bianca Vezzani Luana Toniolo Virginia Barone Giovanna Cenacchi Feliciano Protasi Giuliano Tomelleri Simone Spinozzi Giulia Ricci Gaetano Vattemi Daniela Rossi Carlo Reggiani Enrico Pierantozzi Vincenzo Sorrentino Gabriele Siciliano Lucia Galli |
| Publication date | September 10, 2014 |
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