Tubular aggregate myopathy
Other Names for this Disease
- Myopathy, tubular aggregate
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 The exact cause of the condition is unknown. Sporadic and genetic forms have been reported. Some cases appear to be due to dominant mutations in the STIM1 gene.Tubular aggregate myopathy is a very rare muscle disease where the presence of tubular aggregates represent the major, if not sole, pathologic change in the muscle cell. It is often characterized by muscle weakness or stiffness, cramps, and exercise induced muscle fatigue.
Last updated: 8/15/2014
- 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.
- 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.
- 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.
- 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.
- 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.
- Genetics Home Reference (GHR) contains information on Tubular aggregate myopathy. This website is maintained by the National Library of Medicine.
- The Muscular Dystrophy Association has developed a resource called "Facts About Myopathies" that discusses commonly asked questions regarding myopathies. Click on the link above to view this information page.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Tubular aggregate myopathy. Click on the link to view a sample search on this topic.