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Reply from the Authors: Our recent publication [1] on Duchenne dystrophy carriers draws data from many diverse scientific disciplines. Molecular genetic studies (X inactivation assays) in both blood and muscle are compared with quantitative biochemical studies (dystrophin immunoblot), quantitative histology (myofiber nuclei counts, regenerating fiber and dystrophin expression correlations), and clinical data. This diverse data set caused a very complex article, and we apologize for any difficulty in understanding both methods and conclusions.
Drs. Matthews and Karpati list two of the more predictable conclusions from our article. Severely affected carriers show almost exclusive use of the abnormal dystrophin gene, whereas mildly affected or asymptomatic carriers show more equal use of the normal and abnormal dystrophin genes. Additional conclusions that were, to us, more striking were as follows: (1) regeneration of dystrophin-deficient myofibers by dystrophin-positive myonuclei (genetic normalization) is a very strong force in carrier muscle, (2) diffusion of dystrophin in syncytial mosaic myofibers is a relatively weak force (biochemical normalization), and (3) dystrophin-positive myonuclei appear to be unable to produce stable dystrophin in end-stage muscle (failure of dystrophin production). These results have significant ramifications for future gene …
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