Slow, progressive myopathy in neonatally treated patients with infantile-onset Pompe disease: a muscle magnetic resonance imaging study

Table 1 Clinical, genetic, and muscle MRI findings in 12 patients with infantile-onset Pompe disease and 4 patients with late-onset Pompe disease

No^a	Age of ERT start	Current age (yr)	GAA gene		Each MRI scan
No^a	Age of ERT start	Current age (yr)	Mutation 1	Mutation 2	Age (yr)	MRI Score	CK (U/L)	Mobility scores
NBS2	26 D	9.2	c.1935C > A^b	c.1411_1414del^c	4.9	17	595	20.2
			c.1935C > A^b	c.1411_1414del^c	8.1	24	2500	<10
NBS3	29 D	9.1	c.1935C > A	c.2842insT	4.0	19	2135	18.46
					5.8	23	2444	<10
					8.0	25	1957	<10
NBS4	17 D	8.5	c.1935C > A	c.784G > A	6.3	22	1642	12.12
			c.1935C > A	c.784G > A	8.4	22	1674	22.51
NBS5	34 D	8.0	c.1935C > A	c.1935C > A	2.9	15	1238	33.33
			c.1935C > A	c.1935C > A	4.9	21	1663	26.05
NBS6	12 D	7.6	c.1935C > A	c.[1062C > G; 1286A > G]	2.5	18	735	35.89
			c.1935C > A	c.[1062C > G; 1286A > G]	6.1	18	596	21.88
NBS8	14 D	6.2	c.1935C > A	c.1197_1208del	6.2	21	1156	4.64
NBS9	39 D	5.9	c.1935C > A	c.2040 + 1G > T	0.6	12	198	32.90
			c.1935C > A	c.2040 + 1G > T	4.4	9	1030	30.83
NBS10	6 D	4.5	c.1935C > A	c.1935C > A	1.0	14	733	44.05
			c.1935C > A	c.1935C > A	3.0	12	1020	58.89
NBS11	14 D	4.4	c.1935C > A	c.1935C > A	3.0	16	941	30.06
NBS12	16 D	4.1	c.1935C > A	c.1197_1208del	1.3	18	246	24.44
			c.1935C > A	c.1197_1208del	3.1	22	673	24.53
NBS14	10 D	2.8	c.1935C > A	c.1935C > A	0.0	-	637	-
					0.6	16	344	-
					3.1	15	760	-
CLN3	3 M	9.0	c.1935C > A	c.1411_1414del^c	6.5	20	1904	26.87
			c.1935C > A	c.1411_1414del^c	9	19	1565	24.40
NBSL2	3 Y	8.4	c.2238G > C	c.2662G > T	1.5	11	267	52.19
					7.3	11	267	38.74
NBSL6	3.5 Y	7.7	c.1935C > A	c.[752C > T; 761C > T]	2.7	7	113	39.85
					5.8	7	222	37.85
NBSL12	-	6.4	c.1935C > A	c.[752C > T; 761C > T]	3.5	7	87	60.99
NBSL16	4 M	4.6	c.1935C > A	c.1634C > T	0.4	7	861	-
					3.3	7	173	53.03

D days, M months, Y years; MRI score: MRI severity scores from seven groups of muscles; Mobility scores: Pompe PEDI (Pediatric Evaluation of Disability Inventory specific for Pompe disease) mobility normative scores
^aPatients were numbered by previous studies that NBS indicates classic IOPD detected by screening, NBSL indicates LOPD detected by screening, and CLN indicates clinically diagnosed patients
^bThis mutation is always associated with the c.1726G > A mutation
^cThis mutation is associated with the c.[752C > T; 761C > T] mutation

ISSN: 1750-1172