X-linked myotubular myopathy
Other Names for this Disease
- X-linked centronuclear myopathy
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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. XLMTM is caused by changes (mutations) in the MTM1 gene and is inherited in an X-linked recessive manner. 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.X-linked myotubular myopathy (XLMTM) is a type of
Last updated: 8/6/2015
- X-linked myotubular myopathy. Genetics Home Reference. July 2014; http://ghr.nlm.nih.gov/condition/x-linked-myotubular-myopathy.
- Das S, Dowling J, Pierson CR. X-Linked Centronuclear Myopathy. GeneReviews. October 6, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1432/.
- Genetics Home Reference (GHR) contains information on X-linked myotubular myopathy. This website is maintained by the National Library of Medicine.
- The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- 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.