Re: welcome /1A amino acid exchange

[Guest guest]

Hi ,

I have cmt type 1a with an alteration in pmp-22 sequencing in an

amino acid exchange. However, I cannot remember which of the amino

acids. The report from Athena said that this mutation accounted for

less than 5% of the CMT 1A cases and that the symptoms were usually

more severe than just the deletion/duplication of the pmp-22 gene.

None of my extended family members show signs of CMT. Unless it is

just high arches. However, me & my 3 siblings all have CMT.

We're not sure which parent we inherited it from. Neither show

signs. My dad is 74 & mom 65. We cannot afford genetic testing for

them to see which of them that we inherited it from.

There was alot of information in our report from Athena, and yes, it

is difficult to understand some of it and I'm an R.N.

Where do you live? I have always hoped that one day I would find

and extended family member with CMT. I have posted before about my

genetic testing results and so far no one has said they had the type

we have.

So, do you or your spouse have CMT? One of you does have it

since it is type 1A.

Feel free to e-mail me at glenholly@...

Holly