| |
II-1
|
II-4
|
II-5
|
II-6
|
II-7
|
II-8
|
II-9
|
II-10
|
II-12
|
II-13
|
|---|
|
Sex
|
M
|
F
|
F
|
M
|
M
|
F
|
M
|
M
|
F
|
M
|
|
Age 1
|
56
|
50
|
53
|
54
|
40
|
47
|
38
|
-
|
39
|
35
|
|
Age 2
|
66
|
59
|
57
|
57
|
53
|
51
|
50
|
-
|
44
|
42
|
|
MMT-MRC (%)
|
94
|
79
|
82
|
97
|
76
|
86
|
74
|
100
|
78
|
75
|
|
GSGCA(X/27)
|
25
|
12
|
12
|
25
|
7
|
9
|
9
|
26
|
8
|
6
|
|
6MWT (m)
|
580
|
297
|
225
|
600
|
324
|
325
|
254
|
610
|
268
|
254
|
|
CK
|
170
|
404
|
255
|
140
|
582
|
565
|
404
|
110
|
353
|
887
|
|
FVC %
|
12,8
|
35
|
46
|
11
|
17
|
18
|
20
|
8
|
21
|
18
|
|
DBS
|
3.95
|
2.70
|
0.12
|
4.1
|
0.11
|
0.04
|
0.09
|
20
|
0.12
|
0.31
|
|
Muscle GAA
| |
4.2
|
2.5
| |
2.6
|
2.3
|
2.4
| |
2.5
|
3.1
|
|
Cereb.Anom.
|
+
|
+
|
+
|
+
|
+
|
ND
|
+
|
-
|
+
|
+
|
- The ID number of the patients was relative to the pedigree showed in Figure 2. Age 1: Age at first symptoms (years); Age 2: Age at diagnosis (years); MMT-MRC (%): manual muscle testing (MMT) using the MRC (Medical Research Council) grading scale; GSGCA: Gait, Stairs, Gowers, Chair, Arms; MWT: six-min walk test; CK: creatine kinase (50–190 U/L); FVC %: forced vital capacity (drop from sitting to supine); DBS: GAA activity (1,86-21,9 mol/h/l; Muscle GAA: GAA activity in muscle tissues (34 – 138 pmol/min/mg protein); CA: Angio MR cerebral anomalies.
- With + is indicated the presence of anomalies; with - is indicated the absence of anomalies; ND: not determinate.
