Table 3.

Data of patients P109 and P119 with the c.763C > T mutation.

Sample	XCI-AR	XCI-AS
		WT	Mut
Patient 109 (Clinical score = 20)
Frontal Cortex	65:35	26	74
Occipital Cortex	58:42	59	41
Parietal Cortex	64:36	40	60
Temporal Cortex	60:40	32	68
White matter	59:41	23	77
Brain stem	59:41	31	69
Striatum	61:39	51	49
Cerebellum	55:45	43	57
Blood	73:27	64	36
Patient 119 (Clinical score = 19)
Frontal Cortex	n.i.	48	52
Occipital Cortex	n.i.	NA	NA
Parietal Cortex	n.i.	56	44
Temporal Cortex	n.i.	73	27
White matter	n.i.	46	54
Brain stem	n.i.	38	62
Striatum	n.i.	50	50
Cerebellum	n.i.	50	50
Blood	n.i.	34	66

The XCI-AR column shows the results of the AR XCI assay (percentage of inactivation of each allele). The XCI-AS WT and Mut columns show the results of the allele-specific XCI assay (percentage of inactivation of each allele). n.i. = polymorphism noninformative for the assay. NA = data not available.