Deletions

Comment

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.

Comment by Angie Doub on March 18, 2011 at 9:05pm

My son Austin is 15.  He has a deletion in exon 53 only.  Does anyone else have this one?

Comment by Ruth Griffith on November 17, 2010 at 9:18pm

This image helps me understand the "jigsaw puzzle" analogy better: click on http://www.actionduchenne.org/articleimages/15/aimg76.jpg.

Comment by David on September 1, 2010 at 10:01am

Correction: Prof. Wilton works for The University of Western Australia, which is in Nedlands, Western Australia.

https://www.socrates.uwa.edu.au/Staff/StaffProfile.aspx?Person=Step...

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