[Frequency and causes of prevalence of p.Arg894* mutation in CLCN1 gene responsible for development of Thomsen's and Becker's myotonias in Russian population].

Abstract excerpt

Thomsen's (TM) and Becker's (BM) Myotonias are nondystrophic myotonias. At present, 150 mutations in the CLCN1 gene, which results in the development of TM and BM, have been described. c.2680C > T (p.Arg894*) is the most common mutation. In the Northern Scandinavian countries, the population frequency of this mutation is 0.87%, while in the Russian Federation, it is equal to 1.2% (this study). Based on the...

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