Table 1.

Characteristics of cell donors17,22 and levels of DUX4-FL expression

Cells1	Disease status2	Gender, age, family relation	EcoRI/BlnI sizes (telomere allele)	#DUX4-FL+ve nuclei per 1000 nuclei in myosin+ve cells Ave ± SE (n)
09Abic	FSHD	F, 31 years, proband	25 kb (4qA, paternal), >112 kb (4qA)	0.79 ± 0.21 143
09Ubic	Unaffected	F, 57 years, mother of 09A	47 kb (4qB), >112 kb (4qA)	0.12 ± 0.08 (143
17Abic	FSHD	M, 23 years, proband	19 kb (4qA, maternal), 87 kb (4qA)	3.71 ± 0.63 143
17Ubic	Unaffected	M, 21 years, brother of 17A	97 kb (4qB), >112 kb (4qA)	0.021 ± 0.015 123

FSHD, facioscapulohumeral muscular dystrophy.

¹Cell designations include cohort (family) number (09 or 17) followed by A for the FSHD affected subjects or U for the unaffected first degree relative and ending with bic indicating that the biopsy site was in the biceps muscle.

²FSHD was confirmed by presence of both clinically apparent muscle weakness and a shortened 4q D4Z4 repeat array identified by an EcoRI/BlnI restriction fragment of <35 kb coupled with a 4qA telomere allele.17,68 Shortened repeat arrays with 4qA telomere alleles are shown in bold.

³P < 0.01 by t-test for FSHD versus unaffected within the indicated family.