My son was diagnosed with Dystrophinopathy of deletion 8-41

I deal with this deletion as Duchenne,but I don't know if it is might be BMD since it was not stated in the diagnosis as DMD,just (Dystrophinopathy)

Anybody knows what type it is?

I know that it is not important wether it is DMD or BMD as long as the symptoms are manifested,but it is just the Curiosity!

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Hi moein.my son has deletion 3-48 it is inframe but the doctors think it is duchenne because of the big deletion!my son is Four in may!how old is your son and how is he doing?

Exons 8 - 41 is an out of frame deletion and would be predicted to result in DMD by the reading frame rule. 

 

This website has some information on the genetics.  http://www.skipahead.com



Nadja said:

Hi moein.my son has deletion 3-48 it is inframe but the doctors think it is duchenne because of the big deletion!my son is Four in may!how old is your son and how is he doing?Hi,
My son is 9. he is doing well,but he finds it difficult to climb the stairs and rise up from the floor

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