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Table 1 Clinical and biochemical analysis information of 17 patients of PD and 2 individuals with a single variant

From: Genotype–phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants

Subject Age Sex Symptoms or signs α-Glucosidase activity
DBS Lymphocytes Variant 1 Variant 2
NR:>0.75 µmol/Lh NR:>0.15 nmol/m.n/mgprot
#1 0 M 1, FM 0.5 N/A c.236_246delCCACACAGTGC c.236_246delCCACACAGTGC
#2 7 F A, FM 0.12 0.01 c.-32-13T>C c.1396_1397insG
#3 9 F A, FM 0.15 0.07 c.-32-13T>C c.1396_1397insG
#4 11 F 1, 2, 3 0.16 0.03 c.-32-13T>C c.1831G>A
#5 17 F 2, 3, 4, B 0.37 0.02 c.1328A>T c.1328A>T
#6 19 M A, F 0.37 0.05 c.-32-13T>C c.281_282delCT
#7 31 M 2,3 0.27 0.05 c.-32-13T>C c.1655T>C
#8 32 F 2,3 0.3 0.09 c.-32-13T>C c.925G>A
#9 44 F 1,8 0.34 N/A c.-32-13T>C c.2819C>A
#10 46 M 3, 4, 5 0.36 0.00 c.-32-13T>C c.236_246delCCACACAGTGC
#11 51 M 2, 3, 6, 7 0.21 0.04 c.-32-13T>C c.2104C>T
#12 52 M 3,8 0.48 0.01 c.-32-13T>C c.1889-1G>A
#13 57 F 3, 4, 9 0.37 0.01 c.-32-13T>C c.2237G>C
#14 58 F 3,5 0.33 0.10 c.-32-13T>C c.-32-13T>C
#15 58 M 2,3,4 0.31 0.11 c.-32-13T>C c.655G>A
#16 59 M 2, 3, 8 0.17 0.01 c.-32-13T>C c.-32-13T>C
#17 64 M 2, 3, 6, 7 0.54 0.10 c.-32-13T>C c.875A>G
#18 79 F A, FM 0.65 0.11 c.854C>G
#19 63 M 2, 3 0.47 0.06 c.2065G>A
  1. F, female; M, male; B, biopsy; FM, family member; A, asymptomatic; 1, cardiomyopathy; 2, hyperkalemia; 3, muscle weakness; 4, exercise intolerance; 5, hypotonia; 6, myalgia; 7, dysphagia; 8, respiratory distress; 9, dyspnoea