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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 Jill Keenan on June 5, 2008 at 12:58am
My son is 4 and has a deletion of exons 45 & 46; predicted in-frame, so I think we are out of luck for exon skipping! Our hopes are now hanging on utrophin.
Question to Susan: How long ago was the muscle biopsy performed? We are going in a few weeks for one and Dr. Wong has suggested that we can learn quite a bit from this, not just the amt. of dystrophin. Don't know if this "learning" will be b/c of new technology or new info., but if so, you might want to check into how you might benefit from this insight. OR I might be way off base b/c all of this is so confusing for me. Just thought I would reply to your ?. Maybe others who are well versed in this area can add to my lousy 2 cents!!
Cheers, Jill
Comment by Kim Innabi on June 4, 2008 at 11:26pm
My son is 11 and has a deletion of exon 45. He was diagnosed six years ago.
Comment by Susan Rathfelder on June 4, 2008 at 5:36pm
My son is 17 and was diagnosed at age 9. He has had two different DNA tests and neither test was able to find his deletions or mutations. One of the tests was done at the City of Hope here in Southern Califonia and is supposed to pick up 98% of deletions/mutations. His Muscle Biopsy results were that no dystrophin was found in the muscle sample tested. Any information on other possible DNA testing would be greatly appreciated.
Comment by Kathleen Cacciaguerra on June 4, 2008 at 2:57pm
My son Christian, 6, has a deletion of 48-52.
Comment by Laurie Paschal on June 4, 2008 at 2:10pm
Sam has a deletion of exon 50. Needs 51 skipped.
Comment by Kelvinsmom - Michelle on June 3, 2008 at 10:32pm
Kelvin is 5, born Sept. of 2002, has deletions of 45-52, out-of-frame, need to skip exon 53, according to his doctors, it is already created, but will take some time of course
Comment by Niccole Papp on June 3, 2008 at 9:19pm
My son has deletion of 51-56. I am new to the site. My husband & I justed found out that our 2yo son has DMD.
Comment by Susana Arroyo on June 3, 2008 at 5:56pm
I have a deletion of exon 50
Comment by Pam on June 3, 2008 at 10:59am
My grandson Jt has a deletion of 45-50.
Comment by BOZ4J on May 24, 2008 at 8:38am
Jacob has 45-52 deletion.We need exon 53 to skip.
 

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