Table 1. DUX4 mRNA expression in FSHD and control biopsies.

Biopsy Code	Status	HaplotypesA	DUX4-fl	DUX4-s	3-prime
F 1998	FSHD	A161(10)/n.d.	XS	O	XS
F 0519	FSHD	A161(8)/A161	XS	O	XS
F-0515	FSHD	A161(5)/A161	XS	O	XS
F-0509	FSHD	A161(5)/A166H	O	XS	O
F-0531	FSHD	A161(7)/A161	O	XS	O
F-2306	FSHD	A161(4)/B163	O	X	O
F-2331	FSHD	A161(3)/B163	X	O	XS
F-2316	FSHD	A161(6)/A168	X	O	XS
F-2319	FSHD	A161(5)/B168	O	X	O
F-2315	FSHD	A161(5)/B168	O	O	O
C22	contr	A161/B163	O	X	O
C34	contr	A161/B163	O	XS	O
C40	contr	A161/B168	O	X	O
2333	contr	A161/A161	O	X	O
2397	contr	A161/B168	O	X	O
2401	contr	A161/B168	O	X	O
2398	contr	A161/B163	O	X	O
C33	contr	A166/B170	O	X	O
C39	contr	A166/B168	O	O	O
C10	contr	B168/B168	O	O	O
C11	contr	B168/B163	O	O	O
C31	contr	B163/B163	O	O	O
2318*	contr	B169/B166	O	O	O
C20	contr	B168/B168	O	O	O
C38	contr	B162/B163	O	O	O

^AChrosome 4 haplotype. For FSHD the number in paratheses indicates the number of D4Z4 units on the contracted allele; n.d., indicates that the haplotype of the second allele was not determined.

X, product present; XS, product sequenced; O, product absent.

*has contracted 10qA allele with 9 repeats.