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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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Overview

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.[1][2] The exact cause of the condition is unknown. Sporadic and genetic forms have been reported.[1][3][4]
Last updated: 8/7/2009

References

  1. Gilchrist JM, Ambler M, Agatiello P. Steroid-responsive tubular aggregate myopathy. Muscle & Nerve. 1991;
  2. Chevessier F et al. Tthe origin of tubular aggregates in human myopathies. J Pathol. 2005;
  3. Kim NR, Suh YL. Tubular aggregate myopathy: A case report. J Korean Med Sci. 2003;
  4. Pandit L, Narayanappa G, Bhat I, Thomas V. Case study: Autosomal recessive tubular aggregate myopathy in an Indian family. European Journal of Paediatric Neurology. 2008;
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Basic Information

  • 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.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an 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. 
  • 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.
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.