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Re: Dna test results

I'm sitting here going, "Huh?" It doesn't make much sense. Spontaneous mutations for myotonia congenita are extremely rare, so it's more likely that your parents each carried a recessive gene. It's not totally out of the question, but you would only have one mutation, not two, if it were spontaneous, and for you to have symptoms it would be a dominant form (Thomsen's).

If you can email me the copy of your report or send me the exact mutation/mutations they identified I'll see what I can find on a genome database. The mutation will be a letter, three numbers and another letter. For instance mine is G230E.

All myotonia congenita is caused by mutations. The most common are a substitution of one amino acid for another in the coding for the subunits of the chloride ion channel. Others are deletions, insertions, splices and nonsense mutations. Each type has a little bit different effect on the function of the chloride channel.

Jan

Type of Myotonia: Thomsen's

Country: USA