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- X-linked Myotubular Myopathy
- Autosomal Dominant Centronuclear Myopathy
- Autosomal Recessive Centronuclear Myopathy
The cause of the condition and the associated signs and symptoms vary by subtype. For more information, click on the link of interest above. 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.
Last updated: 8/7/2015
- Centronuclear Myopathy. NORD. 2013; http://rarediseases.org/rare-diseases/centronuclear-myopathy/.
- Glenn Lopate, MD. Congenital Myopathies. Medscape Reference. August 2014; http://emedicine.medscape.com/article/1175852-overview.
- Genetics Home Reference (GHR) contains information on Centronuclear 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) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- 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.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- 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 Centronuclear myopathy. Click on the link to view a sample search on this topic.