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

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

Noa Age of ERT start Current age (yr) GAA gene Each MRI scan
Mutation 1 Mutation 2 Age (yr) MRI Score CK (U/L) Mobility scores
NBS2 26 D 9.2 c.1935C > Ab c.1411_1414delc 4.9 17 595 20.2
    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
    8.4 22 1674 22.51
NBS5 34 D 8.0 c.1935C > A c.1935C > A 2.9 15 1238 33.33
    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
    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
    4.4 9 1030 30.83
NBS10 6 D 4.5 c.1935C > A c.1935C > A 1.0 14 733 44.05
    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
    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_1414delc 6.5 20 1904 26.87
    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
  1. 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
  2. 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
  3. bThis mutation is always associated with the c.1726G > A mutation
  4. cThis mutation is associated with the c.[752C > T; 761C > T] mutation