Major Organic Involvement in Women with Fabry Disease in Argentina

Table 1

GLA gene mutations in women with FD ().

Mutation	All (, %)	Adults	Pediatrics
E398X	14 (40.0)	8	6
p.L415P	11 (31.4)	4	7
A292T	4 (11.4)	4	-
c.680G>A	3 (8.5)	3	-
del 3&4 exons	1 (2.9)	1	-
p.W81X	1 (2.9)	1	-
p.R301Q	1 (2.9)	1	-
Total	35 (100)	22	13