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

Table 1 DUX4-FL expression in differentiated myogenic cell cultures by individual donor and muscle of origin

Family	Donor	*Eco* RI/ *Bln* I fragment sizes	Disease status	#DUX4-FL + nuclei per 1,000 nuclei in MyHC + cells (average ± SE ( n ))
Family	Donor			Biceps-derived (bic)	Deltoid-derived (del)
07	07A	29 kb 4A161	FSHD manifesting	0.095 ± 0.028 (14)**	0.17 ± 0.09 (4)
	07A	53 kb 4A161
	07U	34 kb 4B163	Unaffected	0.00 ± 0.00 (14)**	0.015 ± 0.015 (4)
	07U	53 kb 4A161	Unaffected	0.00 ± 0.00 (14)**	0.015 ± 0.015 (4)
09	09A	25 kb 4A161	FSHD manifesting	0.79 ± 0.21 (14)**	2.14 ± 0.84 (4)*
	09A	>112 kb 4B168
	09U	>112 kb 4A161	Unaffected	0.12 ± 0.08 (14)**	0.00 ± 0.00 (4)*
	09U	>112 kb 4A166H	Unaffected	0.12 ± 0.08 (14)**	0.00 ± 0.00 (4)*
17	17A	19 kb 4A161	FSHD manifesting	3.71 ± 0.63 (14)**	4.76 ± 0.97 (4)**
	17A	87 kb 4A-L161
	17U	97 kb 4B163	Unaffected	0.021 ± 0.015 (12)**	0.012 ± 0.012 (4)**
	17U	>112 kb 4A161	Unaffected	0.021 ± 0.015 (12)**	0.012 ± 0.012 (4)**
	17 V	90 kb 4A161	Unaffected	0.00 ± 0.00 (7)**	n.d.
	17 V	>112 kb 4B168	Unaffected	0.00 ± 0.00 (7)**	n.d.

*P < 0.05, **P < 0.01 by t-test for FSHD vs. unaffected within the indicated family. n.d. = not done.

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