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Myotonia congenita autosomal dominant
Other Names for this Disease
- Autosomal dominant myotonia congenita
- Thomsen disease
- Thomsen's disease
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skeletal muscles to quickly relax after a voluntary movement. The symptoms associated with the condition typically appear in childhood and vary from person to person. There are two forms of the disorder: Becker type, which is the most common form; and Thomsen disease, which is a rare and milder form.  Both conditions are caused by mutations in the CLCN1 gene. However, the conditions have different modes of inheritance. The Becker type is inherited in an autosomal recessive fashion, and the Thomsen type is inherited in an autosomal dominant manner. Myotonia congenita is a genetic condition characterized by the inability of the
Last updated: 7/29/2010
- Myotonia Congenita. National Institute of Neurological Disorders and Stroke (NINDS). February 14, 2007; http://www.ninds.nih.gov/disorders/myotoniacongenita/myotoniacongenita.htm. Accessed 7/29/2010.
- Myotonia Congenita. Genetics Home Reference (GHR). April 2007; http://ghr.nlm.nih.gov/condition=myotoniacongenita. Accessed 7/29/2010.
- Genetics Home Reference (GHR) contains information on Myotonia congenita autosomal dominant. This website is maintained by the National Library of Medicine.
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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.
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