Myotonia congenita autosomal recessive
Other Names for this Disease
- Becker disease
- Myotonia generalized
- Generalized myotonia
- Becker's disease
- Myotonia congenita
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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: 12/26/2015
- NINDS Myotonia Congenita Information Page. National Institute of Neurological Disorders and Stroke (NINDS). October 18, 2015; http://www.ninds.nih.gov/disorders/myotoniacongenita/myotoniacongenita.htm. Accessed 12/26/2015.
- Myotonia congenita. Genetics Home Reference (GHR). April 2007; http://ghr.nlm.nih.gov/condition/myotonia-congenita. Accessed 12/26/2015.
- Genetics Home Reference (GHR) contains information on Myotonia congenita autosomal recessive. This website is maintained by the National Library of Medicine.
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