Molecular Vision: Zhao, Mol Vis 2010; 16:1728-1735. Table 3

Table 3. Mutations in MYOC identified in Chinese families or patients.

Mutation	Location	Case control	Family- base	Phenotype	Proband age at diagnosis	Country/ ethnicity	Reference
R91X	Exon1	Yes		NA		China	[19]
C245Y	Exon3	Yes	Yes	JOAG	16	China	[22,23]
G252R	Exon3	Yes	Yes	JOAG	29	Caucasian, China	[12,20]
E300K	Exon3	Yes		NA	NA	China	[19,22]
S313F	Exon3	Yes		NA	NA	China	[22]
Q337X	Exon3		Yes	JOAG	40**	China	[28]
S341P	Exon3		Yes	JOAG	24	China, Korean	[14,26]
T353I*	Exon3	Yes		NA	NA	Asian	[19,22]
P370L	Exon3	Yes	Yes	JOAG	11	Caucasian, Asian	[12,27,32,33]
N450Y	Exon3		Yes	JOAG	20	China	Present study
T455K	Exon3		Yes	JOAG	26	China	[25]
Y471C	Exon3	Yes		NA	NA	China	[19,22]