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BeckerMD Forums |
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Subject :DMD/BMD deletion/duplication database..
2007-03-08 04:33:01
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| bmdmom |
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| Ninja |
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Joined: 2007-03-07 02:22:22
Posts: 79
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The Leiden Muscular Dystrophy Database
http://www.dmd.nl/ |
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Tanya mom to two BMD boys
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Subject :duplication..
2007-03-12 02:17:08
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| twinsmom |
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Joined: 2007-03-06 00:57:21
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i have twin sons with duplication- looking to connect with others in same situation
Carrie |
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Subject :duplications..
2007-05-26 02:14:43
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| joanne |
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Joined: 2007-03-21 05:39:41
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my son keown has a duplication |
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Last Edited On: 2007-07-03 06:43:51 By j for the Reason |
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Subject :..
2007-07-03 06:41:00
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| joanne |
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Joined: 2007-03-21 05:39:41
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hi just wondering if anbody else has a duplication,
kind regards
joanne |
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Subject :duplication..
2007-07-31 06:21:07
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| s.mtaphouse |
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| Expert |
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Joined: 2007-03-19 21:22:57
Posts: 47
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my son has a duplication
shaz |
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Subject :duplication..
2007-07-31 20:25:18
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| twinsmom |
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Joined: 2007-03-06 00:57:21
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hello, do you know where your sons duplication is?
my boys have a heterozygous duplication on Exons 46-49 |
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Subject :hi..
2007-07-31 21:43:43
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| s.mtaphouse |
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Joined: 2007-03-19 21:22:57
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i found an old letter recently that said my son hasn't got the usual deletion but they were 100% sure it was bmd as he has all the other classic symptoms
if he hasn't got a deletion then he must have a duplication which i will get him to find out about at his next appointment with his hospital consultant.
will let you know the outcome
shaz |
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Subject :DELETION..
2007-08-09 12:02:18
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| gquintero |
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Joined: 2007-08-06 10:52:09
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MY SON HAS A DELETION EXONS 63-79. ANY BODY IN SAME SITUATION.
HI IS 14 YEARS OLD .
G. QUINTERO |
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Subject :MD genetic issues..
2007-08-18 07:30:06
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| kgoodfellow |
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| All Star |
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Joined: 2007-02-20 17:21:41
Posts: 679
Location: Denver |
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Hey G
There are a couple of places that collect information about genetic issues so you can see if there are any people in the world that have the same problem. The Leiden DB as listed in this topic is one of them. Another is at the University of Utah...you can probably find it using Google. I've attached a spreadsheet that summarizes their data...it's a bit confusing, but if you can figure it out you'll be able to see if anyone has the same problem and what their diagnosis was (DMD or BMD).
Kevin |
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K. Goodfellow |
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Subject :not sure how to read this site..
2008-03-29 22:28:16
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| Evans' Mother |
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| Experienced |
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Joined: 2008-03-26 04:43:09
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Is there a place where we can see deletions / duplications matched with exons and see what symptoms others have? |
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Subject :..
2008-03-30 02:20:59
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| kgoodfellow |
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Joined: 2007-02-20 17:21:41
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Location: Denver |
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Hey Evan's mom...
That's a good thought, but science hasn't gotten that far yet. Anything out there today is strictly a guess. This type of research is only now starting. There are so many variables and so many paradoxes (like brothers that have the same genetic MD issue, but have very different severity) that it may take a very long time to figure out....if ever.
Kevin |
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K. Goodfellow |
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