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Diseases

Genetic and Rare Diseases Information Center (GARD)

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X-linked myotubular myopathy

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* Not a rare disease
Other Names for this Disease
  • X-linked centronuclear myopathy
  • XLCNM
  • XLMTM
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Overview


X-linked myotubular myopathy is a condition that primarily affects skeletal muscles, the muscles used for movement. People with this condition have 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] X-linked myotubular myopathy is a member of a group of disorders called centronuclear myopathies. In these conditions, as the name suggests, the nucleus is found in the center of the muscle fibers instead of around the periphery, as is normally the case.[1][3] It is caused by mutations in the MTM1 gene and is inherited in an X-linked recessive pattern, occurring almost exclusively in males.[1]
Last updated: 10/4/2013

References

  1. X-linked myotubular myopathy. Genetics Home Reference (GHR). September 2008; http://ghr.nlm.nih.gov/condition/x-linked-myotubular-myopathy. Accessed 10/4/2013.
  2. Das S, Dowling J, Pierson CR. X-Linked Centronuclear Myopathy. GeneReviews. October 6, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1432/. Accessed 10/4/2013.
  3. Facts About Myopathies. Muscular Dystrophy Association (MDA). 2011; http://static.mda.org/publications/PDFs/FactsAboutMyopathies.pdf. Accessed 10/4/2013.
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Basic Information

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. 
  • 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.