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DMD phenotype presenting as BMD phenotype

Our 10 yr old son has a point mutation in Exon 3 that should result in a severe DMD phenotype. However he presents as a milder BMD phenotype, possibly due to a re-initiation of translation resulting in a low level of dystrophin. Does anyone else have a similar situation?

Regards

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Permalink Reply by Eileen DeLong on July 10, 2012 at 10:30am

HI Andrew,

My boy have a deletion of exon 3-7. They are 16 and 13 and still walking well.

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Permalink Reply by Ambrish Kapadia on July 16, 2012 at 3:38pm

It's really strange to know exactly much qty of dystrophin is really required to keep our sons going well .
Have u guys undergone any tests to ascertain dystrophin % in the body .

This should give some clue to the researchers as how much dystrophin is really therapeutically useful to keep our sons moving on and so to bring therapies quickly in the clinics

Rgds ambrish { father of 5 yr old Dmd boy from Mumbai }

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Permalink Reply by Eileen DeLong on July 17, 2012 at 10:00am

We had biopsies taken for a study of our deletion sent to Dr.Steve Wilton in Australia 2 years ago. We have not had any feedback on that yet, but we see Dr.Wong in Aug so maybe we will get some info then. They are also on Deflazacort and Losartan so that might be having a synergistic affect with the small amount of dystrophin they have.