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 Subject :We got the DNA results today which confirms Beckers.. 2007-04-30 04:02:25 
Roxanne
All Star
Joined: 2007-04-13 22:09:01
Posts: 370
Location: Canada
Hi there, received the results from Nicholas' DNA today, he has a deletion in exon 45-47, Inframe deletion which confirms the Beckers. I would like to hear from other who has this deletion. Roxanne. Nicholas' mom
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Roxanne Mom to Nicholas (10) with BMD
 Subject :DNA Lists.. 2007-04-30 04:18:39 
kgoodfellow
All Star
Joined: 2007-02-20 17:21:41
Posts: 679
Location: Denver
Hey Roxanne Strictly speaking the DNA tests do not predict BMD or DMD...neither does a muscle biopsy. However it gives your doctor more clues and allows them to guess better. Yes, they are still guessing.....(they may not tell you). In/Out of frame issues are a prevailing theory to predict severity, but are only true about 2/3 of the time. I should know, since I'm out of frame, but have very mild symptoms. Anyhow, there are a couple good websites where the information that you are looking for can be found. They are basically lists of people and their particular deletion or duplication. You may find that there is somebody else in the world that has the same genetic problem. However, be prepared, since you will see that two people with the same genetic problem can have VERY different symptoms....some have DMD, while others with the same problem have BMD. This tells me that there is something else going on that has a significant impact on the severity....again I should know, since I'm one of those people. Just wish someone was trying to figure out what that other factor might be.... Leiden (go to the mutation database) http://www.dmd.nl/ University of Utah (for you, click on deletion) http://www.genome.utah.edu/DMD/mutation_tables.cgi Kevin
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K. Goodfellow
 Subject :.. 2007-04-30 23:55:42 
bmdmom
Ninja
Joined: 2007-03-07 02:22:22
Posts: 79
Location: 
Roxanne, I just wanted to send you hugs!!! I know that discovering the deletions once and for all is so overwhelming. Check out the databases as was mentioned...but even brothers with the same deletions can have such different symptoms. It is difficult, I think, as a parent to not have a definitive answer for all of this. But, I'm glad that we can - through modern technology - talk to each other in this online forum - and hope that further discoveries will prove to be miraculous for our boys.
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Tanya mom to two BMD boys
Parent Chat Moderator
 Subject :.. 2007-05-01 03:36:42 
Roxanne
All Star
Joined: 2007-04-13 22:09:01
Posts: 370
Location: Canada
Thank you for your support. I could not get thur this without you. :lol:
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Roxanne Mom to Nicholas (10) with BMD
 Subject :.. 2007-05-31 00:46:43 
Paul the Wolf
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Joined: 2007-04-21 23:40:31
Posts: 9
Location: 
Hi Roxanne My deletion is slightly different, it's 45-49 and from the details i've got it said no stop codon was found either in or out of frame and exon skipping is not needed. Not sure what all that means. :? I wish you and Nicholas all the best. I'm more confident than ever that they will find a treatment in the coming years. Paul :D
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 Subject :Re:We got the DNA results today which confirms Beckers.. 2009-11-22 22:56:50 
superflip
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Joined: 2009-10-27 07:06:24
Posts: 3
Location: 

Hi Goodfellow,I hope you don't mind me asking, but what out-of-frame deletion do you have? M baby boy has been diagnosed with Duchenne due to his gene mutation (through newborn screening) but now has everyone scratching their heads a bit due to his strength and early developement. I'm just HOPING that he has a mutation that somehow produces a milder phenotype. Not that I want to 'down-grade' Becker MD in any way, but I'd much rather that than Duchenne.Hope you don't mind me asking.
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 Subject :Re:We got the DNA results today which confirms Beckers.. 2009-11-25 12:09:22 
BeckerMD
Ninja
Joined: 2009-08-05 11:36:07
Posts: 65
Location: Denver

Hey Superflip...glad you found us.

In general, deletions or other errors in the first several exons have recently been found to have mild symptoms, similar to mine. Milder muscle effects, but worse heart effects.  Dr. Kevin Flanigan can give you the best guess, since he's the leading genetic researcher with respect to BMD/DMD and guessing the phenotype based on genetics. He was at the University of Utah, but has recently moved...I'm not sure where he is working now. A Google search might be helpful.

I admire your courage to look under every rock. It's a small chance, but it's worth exploring.

Kevin
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 Subject :Re:We got the DNA results today which confirms Beckers.. 2009-11-30 06:06:04 
beckerman
Newbie
Joined: 2009-11-30 12:39:33
Posts: 1
Location: 

I was also recently determined to have the same in frame deletions and would be glad to share anything to help Nicholas, as I'm over 50 and still doing well.
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 Subject :Re:Re:We got the DNA results today which confirms Beckers.. 2009-12-08 23:47:03 
superflip
New
Joined: 2009-10-27 07:06:24
Posts: 3
Location: 



Thanks Kevin.


[BeckerMD 2009-11-25 12:09:22]:

Hey Superflip...glad you found us.

In general, deletions or other errors in the first several exons have recently been found to have mild symptoms, similar to mine. Milder muscle effects, but worse heart effects.  Dr. Kevin Flanigan can give you the best guess, since he's the leading genetic researcher with respect to BMD/DMD and guessing the phenotype based on genetics. He was at the University of Utah, but has recently moved...I'm not sure where he is working now. A Google search might be helpful.

I admire your courage to look under every rock. It's a small chance, but it's worth exploring.

Kevin
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