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Re: Myotonic Congenita

Thanks Lois, I have been reading them and ya, it's like reading your life written for you. Jan gave me a lot to go on. I have more work to do starting with my Thyroid meds and New Dna test to see if my unidentified mutations have yet been identified. You're all a huge help, thanks for the support, info and for shedding some light on this "lonely soul in the field".

Re: Re: Myotonic Congenita

David, you shouldn't need to repeat the DNA test. The lab that did the test should have the updated information. Just call and ask to talk to one of the genetic counselors for an update.

The mutation in question was identified, they just didn't have a correlation with clinical symptoms. Labs all over the world publish their new findings periodically so over time the information changes.

Your first mutation was called a transversion which means one amino acid was substituted for another in the sequence. The other was a transition mutation where there was no replacement of an amino acid, but one nucleotide was exchanged for another (nucleotides provide the structure for RNA and DNA). Transition mutations are actually more common in genetics but either one can affect function.

I could be wrong on this, but I believe the first mutation would be notated as F413C, and the second would be 464C->T. If you do a search on F413C and myotonia in Google you'll find lots of references so that one is pretty common. The other one I don't see offhand.


Re: Re: Re: Myotonic Congenita

Thank you !

Re: Re: Myotonic Congenita

I know this is an old thread but I just got my results back and was going over the mutations and I found it a bit interesting because I have F413C, F167L, and then 464C ->T

F413C, and F167L are cataloged as autosomal recessive but maybe F413C overlaps with Thomsen.

Type of Myotonia: Becker

Re: Re: Myotonic Congenita

Thanks Jenna and best of health to you!

Type of Myotonia: Beckers

Country: United States