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Table 2 Comparison of percent DNA methylation between cells derived from FSHD1-affected and nonmanifesting familial cohorts

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

Cohort

Manifesting (%)

Nonmanifesting (%)

Eco RI/ Bln I (kb)

D4Z4 RU*

15

15.2

25.4

28

8

28

14.6

25.2

29

8

29

6.5

12.5

30

8.5

30

10.6

32.6

30

8.5

43

14.2

15.5

19

5

46

13.7

27.6

22

6

47

9.3

14.9 and 16.9

30

8.5

48

7.3 and 4.9

11.7

21

6

49

8.0

18.8

22

6

  1. Comparison of percent DNA methylation using the 4qA BSS assay. *Calculated as D4Z4 RU = (EcoRI/BlnI fragment kb − 2 kb)/3.3 [15].
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Clinical Epigenetics

ISSN: 1868-7083

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