Table 1.

Sample list and associated clinical information

NMD #	Gender	Age	Muscle Bx'd	CSSb	Corr.CSSe	Path.Scorec	D4Z4: Kba	NMD#	Gender	Age	Muscle Bx'd
FSHD1								Control
F1	M	47	L QUAD	0/10	0	2	26	C1	M	37	L QUAD
F2	F	45	L QUAD	5/10	111	NHSd	18	C2	M	44	L QUAD
F3	F	55	R QUAD	6/10	109	4	15	C3	M	62	L QUAD
F4	M	33	R QUAD	6/10	122	5	24	C4	M	48	L QUAD
F5	M	52	R QUAD	6/10	151	NHS	22	C5	M	58	L QUAD
F6	F	30	L QUAD	3/10	100	3	23	C6	F	69	R ANT TIB
F7	F	61	R QUAD	6/10	99	6	16	C7	F	41	L QUAD
F8	F	26	R QUAD	7/10	269	5	15	C8	F	53	L QUAD
F9	M	48	L QUAD	3/10	63	4	17	C9	F	32	R QUAD
NMD #	Gender	Age	Muscle Bx'd	CSS	Corr.CSSe	Path.Score	SMCHD1 mutation	FseI %f
								Blood	Blasts
FSHD2
F10	M	42	R QUAD	5/10	119	2	YES	12	**
F11	M	34	L QUAD	6/10	176	3	YES	16	2
F12	M	26	R QUAD	6/10	231	4	YES	7	3
F13	M	50	L QUAD	5/10	100	5	NO	13	**
F14	F	56	R QUAD	7/10	125	3	YES	25	7
F15	M	59	L QUAD	2/10	34	2	NO	15	0

^aAll refer to the size of the FSHD-permissive 4qA161 allele.

^bCSS: clinical severity score: 0 asymptomatic-10 wheelchairbound.

^cPath score: 0 = no pathology – 12 = severe pathology (none had inflammation).

^dNHS, no histologic sample collected.

^eAge corrected CSS = (CSS/age at examination) × 1000.

^fFseI %: percentage CpG methylaion of D4Z4 as measured by the FseI restriction endonuclease.

**Blast FseI same as blood.