Thanks a lot!

The simple testing for the most common mutations I have already done (at CeGaT, for a lot of money!). So it must be a full sequencing to detect deletions, duplications and splicing mutations in the intron.

I was once in a study for morbus pompe. They checked my pompe gen free of cost and found a new mutation, but heterozygot. So I don't have the pompe desease.

Studies are great! But I think that now noone else in the world has an interest in Myotonia.

Stephany

Type of Myotonia: unknown

Country: Switzerland

Stephany, I saw a trial that is still recruiting in Holland. You have to have confirmed genetic testing to qualify, however I'm thinking they may be able to tell you where you might get full sequencing done for free or participate in a similar study that includes genetic testing:

NDM Study

Jan

Type of Myotonia: Thomsen's

Country: US

My clcn1 test was $1000.

Type of Myotonia: Beckers

Country: USA