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X-linked myopathy with excessive autophagy


Other Names for this Disease

  • Myopathy, X-linked, with excessive autophagy
  • XMEA
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Overview

X-Linked Myopathy with Excessive Autophagy (XMEA) is a type of inherited myopathy (muscle disease) that mainly affects males. It is characterized by muscle weakness that slowly worsens over time. Weakness involving the upper legs, affecting activities such as running and climbing stairs, may be noticed first. As the condition progresses, men with XMEA may experience weakness in their lower legs and arms. Some people with XMEA remain able to walk in advanced age, while others require assistance in adulthood. It is caused by mutations in the VMA21 gene and is inherited in an X-linked recessive fashion.[1][2]
Last updated: 10/10/2011

References

  1. Myopathy, X-linked, with excessive autophagy. Online Mendelian Inheritance in Man. 2009; http://www.ncbi.nlm.nih.gov/omim/310440. Accessed 6/15/2011.
  2. VMA21. Genetics Home Reference. October 4, 2011; http://ghr.nlm.nih.gov/gene/VMA21. Accessed 10/10/2011.
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Basic Information

In Depth Information

  • The 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 X-linked myopathy with excessive autophagy. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Myopathy, X-linked, with excessive autophagy
  • XMEA
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.