A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates.
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Rossi D, et al. Among authors: reggiani c.
Hum Mutat. 2014 Oct;35(10):1163-70. doi: 10.1002/humu.22631. Epub 2014 Sep 10.
Hum Mutat. 2014.
PMID: 25116801
Free PMC article.