|
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
|
–
|
- 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
