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Figure 5 | Clinical Epigenetics

Figure 5

From: Individual epigenetic status of the pathogenic D4Z4 macrosatellite correlates with disease in facioscapulohumeral muscular dystrophy

Figure 5

FSHD1-affected subjects have lower DNA methylation levels in myocytes at the distal pathogenic D4Z4 repeat than nonmanifesting relatives. BSS analysis (as described in Figure 3) of the distal pathogenic D4Z4 RU in family cohorts of myogenic cells from FSHD1-affected (left column) and FSHD1-nonmanifesting (right column) subjects. As in Figure 3, on average >99% of the predicted CpGs for the 4qA D4Z4 region were identified in the sequences analyzed for each sample, indicating that the amplified BSS products are specific to 4qA. Refer to the Figure 3 legend for additional details and descriptions.

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