Unsure if anyone can help with my query, but my nephew was diagnosed with Duchenne 2 years ago and he has a deletion of 8-21. His biopsy shows his phenotype is duchenne but his deletion shows he should have mild BMD. Hospital say he doesnt have another deletion elsewhere. Has anyone heard of this before, as we are still trying to understand why he would have DMD and not BMD. Could the hospital have missed anything??
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