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• W2016304407 abstract "Some Becker muscular dystrophy carriers, related to patients with specific DNA deletions, demonstrate both normal and abnormally sized dystrophin bands through qualitative Western blot analysis. The purpose of the present investigation was to assess the sarcolemmal distribution of the altered dystrophin in such carriers. Fibres expressing the normal or deleted dystrophin were identified using specific antibodies which reacted with epitopes from within the deleted region. No negative fibres or patchy immunostaining could be seen when sections from four carriers were labelled with either antibodies (C-terminal and corresponding to the deleted region), although a significant amount of abnormal dystrophin was present in their muscle (as seen on blots). Thus, we were able to confirm that in a proportion of the myonuclei, the defective allele was present on the active X chromosome. Our results suggest that the two types of nuclei were randomly distributed, resulting in normal and abnormal dystrophin molecules which were so intimately mixed that dystrophin-incompetent fibres could not be distinguished in the skeletal muscle from the Xp21 carriers." @default.
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• W2016304407 date "1993-01-01" @default.
• W2016304407 modified "2023-09-24" @default.
• W2016304407 title "Sarcolemmal distribution of abnormal dystrophin in Xp21 carriers" @default.
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• W2016304407 doi "https://doi.org/10.1016/0960-8966(93)90005-5" @default.
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