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Deletions

Members: 237
Latest Activity: Feb 3, 2017

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Deletion of exon 44

Started by Rahul Deshpande. Last reply by Tuyet Lan Thi Tran Jul 26, 2014. 2 Replies

Exons 51-53?

Started by Kira Mullaly. Last reply by vishal wadhwani Jul 25, 2014. 9 Replies

Deletion of Exon 45 (Out of Frame)

Started by Tammy. Last reply by Ramya Srinivassan May 2, 2014. 15 Replies

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Comment by Heidi Miller on July 5, 2008 at 11:33am
My son Mitch, 23 yrs of age and a wonderful young man, has a deletion of exons 48-50. I am interested in finding others with the same deletions to compare "symptoms." As we know, especially those of us who have been living with DMD for many years and know a large group of boys with DMD, each boy has specific problems and they differ from each other is suble ways, or not so subtle ways. I am interested in parents comparing boys with the same deletions. If these boys and young men do have similarities, I feel it can be of help to parents. I believe this because a parent canhave some idea of what to expect and how to help prepare and treat a "symptom." I know that some boys have problems with their heart for examole, some do not. Also, some boys have problems with their kidneys and baldder as hey get older. Also, weight seeems to be a big difference. Either a boy grows up overweight, or can be very thin. You rarely see a boy "in-between." Some boys walk up into their teens, where others are w/c bound by age of 8. I also know there are proiblems with swallowing, and more specifically, a young man can't keep food down very well, eventually to be tube fed. It seems to be more than just the weak swallow muscles as my son now had due to his age. I have known several young men who litterally couldn't eat as the food didn't stay down. This is just a thought to consider...maybe parents wiht children of the same deletions can gather and discuss this.
Comment by Marla Swope on July 4, 2008 at 9:15pm
Baylor has an out of frame deletion of 8-9. I've never seen another child with his same deletion. Is there anyone out there whose son has this deletion? He just had a muscle biopsy done on July 1, and it went down by courier to the University of Utah. Does anyone know how long it takes to get the results?
Comment by Jill Keenan on July 4, 2008 at 1:34am
Amanda, you are absolutely welcome here but I think the group you need is the duplications group--find them on the page with all the groups, just like you did this one. I, for one, don't know if a duplication of 45 is rare but bet you might get answers from the other group. (Although I'm sure that some in this group know the answer!!) As far as explaining exon skipping or the stop codon, I'm gonna leave that to someone else who can explain better than I can=) Good luck, Amanda!
Comment by Amanda Rudd on July 3, 2008 at 8:24pm
I am not sure if I am in the right group. My so has a duplication of exon 45 Has anyone heard of anyone else having this type. It must be very rare b/c I have seen no cases. I am not really sure what exon skipping or stop mutation is. Can anyone elaborate???
Comment by Kim Innabi on June 27, 2008 at 3:34am
Thanks for the info Christian...sorry I missed your comment Cheryl. I don't think I have a handle on all the areas on this site yet. I keep missing things! Take care.
Comment by Kim Maddux on June 24, 2008 at 2:09am
My son Alex was diagnosed 3-1/2 years ago (age 5) of DMD. He has deletion of 8-19. He still gets around pretty well. I hope we all benefit from something soon.
Comment by Sonia Miller on June 21, 2008 at 7:38pm
My son Shawn (9) was diagnosed almost 4 years ago with DMD/BMD. He has a deletion exons 22 through 44. He has recently been more confined to his power chair.
Comment by Tonya on June 21, 2008 at 4:42pm
Gavin has a deletion of exons 48-50
Comment by cindy q on June 17, 2008 at 9:02am
My 6 year old son has deletion 45-52, out of frame. He was diagnosed with DMD 1 year ago at age 5. I have heard that deletion has also been associated with Becker (?). Is there anyone out there who has this same deletion but was diagnosed with Becker not DMD?
Comment by Michael A. Papp on June 16, 2008 at 2:07pm
My son Michael is 27months and he has deletion 51-56. Still trying to come to terms with his diagnosis. My wife and I just recently find out that our son has DMD.
 

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