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Diseases

Genetic and Rare Diseases Information Center (GARD)

X-linked myotubular myopathy


Other Names for this Disease
  • X-linked centronuclear myopathy
  • XLCNM
  • XLMTM
Related Diseases
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Overview

X-linked myotubular myopathy (XLMTM) is a type of centronuclear myopathy, which is a group of rare, inherited conditions that affect the muscles. XLMTM, specifically, occurs almost exclusively in males and is characterized by progressive muscle weakness (myopathy) and decreased muscle tone (hypotonia) that can range from mild to severe. The muscle problems impair the development of motor skills such as sitting, standing, and walking, and may disrupt primary functions such as breathing and feeding.[1][2] XLMTM is caused by changes (mutations) in the MTM1 gene and is inherited in an X-linked recessive manner.[1] Treatment is based on the signs and symptoms present in each person and may include physical and/or occupational therapy and assistive devices to help with mobility, eating and/or breathing.[2]
Last updated: 8/6/2015

References

  1. X-linked myotubular myopathy. Genetics Home Reference. July 2014; http://ghr.nlm.nih.gov/condition/x-linked-myotubular-myopathy.
  2. Das S, Dowling J, Pierson CR. X-Linked Centronuclear Myopathy. GeneReviews. October 6, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1432/.
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Basic Information

In Depth Information

  • 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 myotubular myopathy. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • X-linked centronuclear myopathy
  • XLCNM
  • XLMTM
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.