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Re: Diagnosis Report

That would mean you have Becker's MC (recessive). You have two different mutations...some with Becker's have two of the same. The various combinations seem to determine how severe the symptoms will be.


Type of Myotonia: Thomsen's

Country: US

Re: Diagnosis Report

DNA variant: Disease-associated mutation,heterozygous/ Inheritance : Unknown/ No abnormal DNA SCN4 gene/Analysis DNA identified two known disease-associated mutations in the CLCN1 gene tested causing mutations associated with Myotonia Congenita.

Hello. Tell your family was sick?

Type of Myotonia: Bekkera

Country: Russia