Thanks Jenna, I have a mutation in the clcn1 and one or more DNA variants of unknown significance

Type of Myotonia: Becker

Country: U.S.A.

Dave:

Did you post the exact mutations a few years ago? If you're the right Dave, then I think you have two of the same mutations I have. F413C, and then, the one of unknown significance, a C to T transition at nucleotide position 1392.

I can't help but wonder if that mutation of unknown significance is responsible for our atypical symptoms.

There was a study a while back which documented someone with the other disease causing mutation I have, and this same C to T transition, who was symptomatic even though the disease causing mutation was thought to be recessive.

One theory put forth to explain those with single recessive mutations who still have clinical symptoms is something called "copy number variation". Essentially the section of the gene with the mutation is copied and integrated into the chromosome, so you have the same mutation on the same chromosome twice.

Maybe this unknown mutation is a marker for it. We should see if someone wants to do a study on it :-)

Type of Myotonia: Becker

Wow Jenna, what a memory! It is me. I don't have time right now to write about my past 5 year journey but, I will get back in a few to compare notes.

Type of Myotonia: Becker

Country: U.S.A.