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Re: Mutation

Myotonia Congenita is caused by a mutation in the CLCN1 gene, in that you are not alone.

Patient's with Becker's variant are known to suffer worse symptoms, including attacks of muscle weakness in the limbs.

I also use Mexitil, it works to a degree in that I am stabilised but the myotonic symptoms are still present.

We all have the problem with potassium and caeffeine too!

Type of Myotonia: Becker's

Country: England

Re: Mutation

Leroy,

CLCN1 is the name of the gene you have a mutation, or mutations on. If you have the lab report, it should tell you the exact mutation or mutations you have on that gene.

There are some good videos on youtube about how genes work if you are the curious type.

Here's an old video but a good one.
http://www.youtube.com/watch?v=l0TC9Lt7IGU&NR=1

If you think of a strand of DNA like a spiral stair case, then a gene would be a flight of stairs in that star case.

Type of Myotonia: Becker

Country: USA