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Deletions

Members: 237
Latest Activity: Feb 3, 2017

Discussions

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 Andrea Cleary on February 8, 2012 at 6:34am

Hello Christina,

My son Simon, 11, also has deletions of 48-50, and is doing well and is a participant in the exact trial Andrew mentioned. We have been discussing recently here how to get this drug approved faster, which would open the gates for other medications to flolllow.

Comment by Andrew Kerr on February 8, 2012 at 1:09am

Hi Christina,

There are trials going on now for skipping exon 51, which would bring your son back into frame (make partially functional dystrophin).  

Comment by Christina Roberts on February 8, 2012 at 12:01am

my son is two and also recently diagnosed and has deletions of 48-50 anyone else with a son that has the same, has there been any treatments for this particular deletion?

Comment by Kristina on October 25, 2011 at 2:39am

Hi everyone, we are pretty new here and a bit shy to write here. Our son was recently diagnosed with dmd. He is four. I wonder if there is anyone hwo has deletion of exon 72. I'd really appreciate hearing from you. Thanks!

Comment by Deb Robins on July 10, 2011 at 8:14am
Please send survey to all? Esp Aussies but not exclusively -Klair wants all opinions.  Both partners fill out .  http://goo.gl/kUz5T
Comment by Jeni Ward on June 7, 2011 at 7:53pm

It does not matter how many exons are deleted. Each exon has a certain shape that fits together with the next one. There could be several deleted, but if the next one there fits with the one before the deletion, it would actually be less severe. If they don't fit, they don't fit, regardless of the deletion between them.

Does that make sense? I think there are studies trying to figure out if which exons are skipped has an effect on severity, but I don't know of any conclusive evidence yet. I think it progresses in each individual at a slightly different rate, but no one knows why for sure.

Comment by Bryan & Cari Sweet on June 7, 2011 at 6:04pm

Does anybody know if there is any relation to the amount of exons skipped and how fast the disease progresses?

 

Comment by Brenna on April 8, 2011 at 4:17pm
Just getting back for Columbus Ohio, Sawyer may qualify for AVI's Exon 51 skipping.  Anyone else out there being evaluated?
Comment by Aaron Wolf on April 6, 2011 at 2:16am
My son Carl's deletion is 40-43.  He just turned seven.
Comment by Anessa Fehsenfeld on March 28, 2011 at 4:53pm

http://www.prosensa.eu/patients-family/duchenne-muscular-dystrophy/...

I like this link too for understanding which exon my son needs skipped to correct his mutation.  My son's deletion is 3-7.  If you look at the shapes of the exon you'll notice he needs to skip exon 8 so exon 2 will "fit" to exon 9.

 

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