My son was recently diagnosed with BMD (at least 92% predicted BMD with dna test) He has a deletion of 45-48. I was not told if it is in or out of frame. Not sure what some of this means. Any help?

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Hi Lisa,
Great News. He is in frame. My son has a deletion of 45-49. When we were with Dr. Wong she first put in his deletion into her computer as 45-48. It showed in-frame. Then we realized she typed it in wrong and changed it to 49. My son is also in-frame. one way to positively know is a biopsy. We did it and Michael has mild-moderate BMD. His dystrophin is atleast 20%.Hope this helps. I found this data sheet a long time ago. click on the link.

http://www.dmd.nl/DMD_deldup_Bulgaria.html.

-Love & Hugs, Tamara
Michael age 4
Also, here is a frame checker.

http://www.dmd.nl/DMD_deldup.html

written in blue in first paragraph, click on "DMD reading frame checker"

Put in 45 in the first "from location" box and 48 in the "To Location" box. Click "check"

This will give you your reading. Sorry if it sounds confusing. Call me if you need help.

623*670*3575
Thank you so much. This is all so new. I am glad to find someone to talk to.

Tamara said:
Also, here is a frame checker.

http://www.dmd.nl/DMD_deldup.html

written in blue in first paragraph, click on "DMD reading frame checker"

Put in 45 in the first "from location" box and 48 in the "To Location" box. Click "check"

This will give you your reading. Sorry if it sounds confusing. Call me if you need help.

623*670*3575

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