Fig. 3

DNA methylation analysis in peripheral blood and tissues. a Four regions within D4Z4 were amplified by PCR after sodium bisulfite treatment of genomic DNA. Amplicons were cloned and at least 10 individual clones were analyzed by Sanger sequencing. Each clone is representative of a molecule of DNA of the initial sample. The position of the four sets or primers used is indicated with black lines below schematic D4Z4. b Histogram bars represent the percentage of methylated (black) or unmethylated (white) CpG for each position in the DR1 (31 CpGs), 5’ (21 CpGs), Mid (31 CpGs), and 3’ (14 CpGs) regions in genomic DNA from PBMCs for each individual. c DNA methylation analysis in genomic DNA from a quadriceps muscle biopsy and primary fibroblasts from the II1 index case