Myotonia congenita autosomal dominant

Common Name(s)

Myotonia congenita autosomal dominant

Myotonia congenita is a genetic condition characterized by the inability of the 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.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Myotonia congenita autosomal dominant" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Myotonia congenita autosomal dominant" returned 2 free, full-text research articles on human participants. First 3 results:

Phenotypic variability of autosomal dominant myotonia congenita in a Taiwanese family with muscle chloride channel (CLCN1) mutation.
 

Author(s): Ting-Yu Chang, Hung-Chou Kuo, Kuang-Ming Hsiao, Chin-Chang Huang

Journal: Acta Neurol Taiwan. 2007 Dec;16(4):214-20.

 

Myotonia congenita (MC), whether inherited in autosomal dominant or recessive form, is caused by mutation of CLCN1 on chromosome 7 and associated with impaired skeletal muscle relaxation after contraction. The basic pathophysiology is the reduction of chloride conductance in skeletal ...

Last Updated: 28 Jan 2008

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A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel.
 

Author(s): C Fahlke, C L Beck, A L George

Journal: Proc. Natl. Acad. Sci. U.S.A.. 1997 Mar;94(6):2729-34.

 

Autosomal dominant myotonia congenita is an inherited disorder of skeletal muscle caused by mutations in a voltage-gated Cl- channel gene (CLCN1, 7q35). Here, we report that a mutation predicting the substitution of Gly 230 by glutamic acid (G230E) between segments D3 and D4 dramatically ...

Last Updated: 24 Apr 1997

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Reviews from the PubMed Database

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The terms "Myotonia congenita autosomal dominant" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.