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Duplications

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Comment by Kari on October 30, 2008 at 10:55pm
How do you know without a biopsy if there is dystrophin? I see Isabel you were able to find out. I would love to find out for my son.
Comment by Isabel Cubas on October 29, 2008 at 9:23am
My son has a duplication 8 thru 12 that was revealed thru DNA. Thus Muscle Biopsy was not necessary. He does not produce any dystrophin.
Take care, Isabel =)
Comment by Jo-Anne on October 29, 2008 at 2:57am
Char, Kevin as I mentioned below was I think duplication 62 or 63, written it down somewhere, he does have some dystrophin but have not been told how much exactly. We had to have a muscle biopsy done as when the blood tests where first done in Sydney, they had to re-test them 3 times as they were negative each time. The biopsy showed that he has DMD but a mild version. They were not sure of what way this is going to go but we can see the signs clearly.
Comment by Kim Simpson on October 15, 2008 at 10:55am
Austin has a duplication of 46-47. He had a muscle biopsy and no dystrophin was found.
Comment by Jo-Anne on October 13, 2008 at 2:11am
Hi Char
My son Kevin has had a muscle biopsy at the end of 2006 and when I saw the Neurologist last month, I did ask where his duplication was. I was told that it is no 62 and because we did not know before his biopsy was done, it apparently changes. I am a bit confused with all of this and so do not know too much on how they can change or not etc. Can someone else shed some light if they know a bit more. Thanking you Jo-Anne
Comment by Kari on October 12, 2008 at 1:49am
Duplication 27-28 with no muscle biopsy (thinking perhaps it should be done)?
Comment by Char Burke on October 11, 2008 at 11:46am
I am interested in knowing if any of your sons have had muscle biopsies and whether there was any dystrophin found. Also, please list your son's duplication as well.
I will start - duplication 54-57 and no muscle biopsy....
Thanks.
Char
Comment by Char Burke on June 29, 2008 at 3:06am
I have read that the best predictor of how your son will do is look at family members who have had DMD. Also, have heard muscule biopsy can also look at the % of dystrophin and the cells look like, etc. Char
Comment by Char Burke on June 29, 2008 at 3:03am
Aimee - not sure what you mean by which "class" your son falls into. Most mutations are not the entire exons....they are either deletions, duplications, stop condons, etc. The exon itself is 79 exons long. Certain regions are more symptomatic - i.e. at the beginning of exon or at the end of it. Then, there are other factors within the exon like hinge areas....I also know with duplications, how the duplication is set up can vary. It's complicated. In frame is less symptomatic vs. out of frame. You can look for someone that has the exact mutation in the Leiden Data Base or University of Utah but to tell you the truth, one boy can have the same exon deletion and the other boy, with the same one, can be doing entirely different. Like I said, it is very complex. Char
Comment by Aimee Ealy on June 8, 2008 at 11:59am
I am still confused about which "class" my son falls into. We have seen a genetisist. He has a "duplication of four bases pairs in exon 13 with a frame shift". After reading and asking questions, I took this to mean that his duplication is not the entire exon, just a part of it (TGGA). I don't know if this means anything though. This exact mutation is not listed on any registry. Any input would be helpful!
 

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