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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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Inheritance

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Is tubular aggregate myopathy genetic?

It is evident from family history studies that the condition can be passed through families in either an autosomal dominant or autosomal recessive fashion. Some cases appear to be due to dominant mutations in the STIM1 gene.[1] Sporadic cases of tubular aggregate myopathy have also been reported. “Sporadic” is used to denote either a genetic disorder that occurs for the first time in a family due to a new mutation or the chance occurrence of a non-genetic disorder or abnormality that is not likely to recur in a family.
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.
  2. Gilchrist JM, Ambler M, Agatiello P. Steroid-responsive tubular aggregate myopathy. Muscle & Nerve. 1991 Mar; 14(3):233-6. http://www.ncbi.nlm.nih.gov/pubmed/?term=2041544. Accessed 8/15/2014.
  3. Kim NR, Suh YL. Tubular aggregate myopathy: A case report. J Korean Med Sci. 2003 Feb; 18(1):135-40. http://www.ncbi.nlm.nih.gov/pubmed/12589105. Accessed 8/15/2014.
  4. Pandit L, Narayanappa G, Bhat I, Thomas V. Autosomal recessive tubular aggregate myopathy in an Indian family. European Journal of Paediatric Neurology. 2009 Jul; 13(4):373-5. http://www.ncbi.nlm.nih.gov/pubmed/?term=18684652. Accessed 8/15/2014.
  5. Chevessier F et al. The origin of tubular aggregates in human myopathies. J Pathol. 2005 Nov; 207(3):313-23. http://www.ncbi.nlm.nih.gov/pubmed/16178054. 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.