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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Tubular aggregate myopathy


Other Names for this Disease

  • Myopathy, tubular aggregate
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Cause

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What causes tubular aggregate myopathy?

Currently, the underlying cause of tubular aggregate myopathy is not known. Some cases appear to be due to dominant mutations in the STIM1 gene.[1]
Last updated: 8/15/2014

References
  1. Böhm J et al. Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy. Am J Hum Genet. 2013 Feb; 92(2):271-8. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3567276/. Accessed 8/15/2014.


Other Names for this Disease
  • Myopathy, tubular aggregate
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.