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Just got the diagnosis

 
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cmtmom123



Joined: 23 Jan 2009
Posts: 34

PostPosted: Fri Nov 06, 2009 1:01 pm    Post subject: Just got the diagnosis Reply with quote

Finally

We just got the diagnosis of cmt2a nevouxmutation mitofusion 2. We are told that nobody in the world has this mutation. Is any body else like this? All my children have a form of the mutation, that is wopping 3 and a husband. And like cmt it effects them all differently.
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Cathy



Joined: 31 May 2005
Posts: 3395
Location: Connecticut

PostPosted: Fri Nov 06, 2009 4:45 pm    Post subject: Reply with quote

I am glad you finally have a diagnosis but I have not heard of that type.
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"Live with hope rather than fear for no one knows their future." Cathy

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cs2thecox



Joined: 07 Aug 2006
Posts: 525
Location: London, UK

PostPosted: Sun Nov 08, 2009 2:29 pm    Post subject: Reply with quote

I have a weird mutation of type 2A as well. At first we thought I was the only one in the world but my neurologist did some research and it turns out there are 2 families in Spain with a very similar one - the same protein change but at a different location on the gene. I don't think it has a name yet!

The Spanish mutations are Arg364Gln and Arg94Gln, on MFN2. Mine is Arg1091Gln I think.
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Caroline
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