Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy.
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Am J Hum Genet. 2013 Feb 7;92(2):271-8. doi: 10.1016/j.ajhg.2012.12.007. Epub 2013 Jan 17.
Am J Hum Genet. 2013.
PMID: 23332920
Free PMC article.