Table 1

Characteristics and genotype of patients with Pompe disease

Patient	Genotype	ERT	Outcome	Year of birth	Clinical phenotype	CRIM status	Sibship
1	p.(Gly648Ser); (Arg854*)	Y	Alive	2015	Infantile	Positive
2	p.(Gly648Ser); (Arg854*)	Y	Alive	2013	Infantile	Positive
3	p.(Gly648Ser); (Arg854*)	Y	Alive	2013	Infantile	Positive
4	p.(Gly648Ser); (Arg854*)	Y	Alive	2012	Infantile	Positive	Sister 9/F1
5	p.(Gly648Ser); (Arg854*)	N	Dead	2011	Infantile	Positive
6	p.(Gly648Ser); (Arg854*)	N	Dead	2011	Infantile	Positive
7	p.(Gly648Ser); (Arg854*)	Y	Dead	2010	Infantile	Positive	Brother 17/F2
8	p.(Gly648Ser); (Arg854*)	N	Dead	2010	Infantile	ND
9	ND	N	Dead	2010	Infantile	ND	Brother 4/F1
10	p.(Gly648Ser); (Arg854*)	N	Dead	2008	Infantile	ND
11	ND	N	Dead	2007	Infantile	ND	Brother 19/F3
12	p.(Arg854); (Arg854)	N	Dead	2006	Infantile	Negative
13	p.(Arg854*); ((?))	N	Dead	2005	Infantile	N	Brother 15/F4
14	ND	N	Dead	2005	Infantile	N
15	ND	N	Dead	2003	Infantile	ND	Sister 13/F4
16	ND	N	Dead	2003	Infantile	ND
17	ND	N	Dead	2002	Infantile	ND	Brother 7/F2
18	ND	N	Dead	2002	Infantile	N	Cousin 19/F3
19	p.(Gly648Ser); ((?))	N	Dead	2002	Infantile	ND	Cousin 18/F3

CRIM, cross-reactive immunological material; ERT, enzyme replacement therapy; F, the family to which the child belongs; N, no; ND, not done; Y, yes.