Abstract
We were delighted to read the comments from our colleague, Dr. Martin Krahn and his team,1 noting that they, too, detect the deep intronic dysferlin mutation that we described.2 We fully agree that this will likely be an infrequent mutation, even in the population of dysferlinopathy cases with only one known exonic dysferlin mutation, though it might be recurrent in specific populations. We anticipate that there will be other mutations deep within introns and other regulatory regions that will be identified through expanded strategies to screen for mutations such as the RNA analyses described in our paper, which could be applied to screens for other diseases as well.
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