Patient | Age at onset [years] | First symptoms | Walton & Gardner-Medwin scale | FVC in sitting/ supine position [%] | GAA activity [nmole/mg/hr] | Allele 1 | Allele 2 | Observation period [years] | Gender |
---|---|---|---|---|---|---|---|---|---|
classic infantile | |||||||||
1 | postnatal | respiratory insufficiency | - | - | 1.0$ | c.1799G>A | c.2481+102_2646+31del | 6 | f |
2 | prenatal | cardiomegaly | - | - | 0.3$ | c.1637-2A>G | c.1637-2A>G | 2 | m |
3 | 3/12 | adynamia in breathing and sucking | - | - | 1.2$ | c.[2740dup; 2742dup] | c.[2740dup; 2742dup] | 4/12 | f |
childhood | |||||||||
4 | 1 | no standing aged 1 year | 3 | 48/50 | 0.01§ | c.-32-13T > G | c.1051delG | 9 | m |
5 | 1.5 | no free walking aged 1.5 years | 8 (walking support aged 15 years, wheelchair aged 17 years) | ? | 0.2$ | c.2297A>G | c.1561G>A | 29 | f |
6 | 1.5 | no free walking aged 1.5 years | 3 | 32/27 | 2.0$ | c.1370C>T | c.1128_1129delinsC | 4 | m |
juvenile | |||||||||
7 | 1/12 | adynamia in breathing and swallowing | 0 | 75/78 | 2.1$ | c.-32-13T > G | c.2481+102_2646+31del | 14 | m |
8 | 0 | muscular hypotonia, adynamia in swallowing | 7 (wheelchair aged 19 years) | 32 | # | c.-32-13T > G | c.525delT | 21 | f |
9 | 1 | no standing aged 1 year | 2 | 72/54 | 0.8$ | c.-32-13T > G | c.2481+102_2646+31del | 30 | m |
10γ | 1 | no crawling aged 1 year | 0 | 71/66 | 0.5$ | c.-32-13T > G | c.525delT | 15 | m |
11 | 1 | muscle weakness, adynamia in swallowing | 3 | 80/74 | 1.2$ | c.-32-13T > G | c.1548G>A | 20 | f |
12 | 2 | muscle weakness | 0 | 89/86 | 0.5$ | c.-32-13T > G | c.118C>T | 20 | m |
13 | 2 | muscle weakness | 2 | ? | 0.02§ | c.-32-13T > G | c.2214G>A | 2 | f |
14 | 6.5 | muscle weakness | 0 | 91/94 | 0.03§ | c.-32-13T > G | c.1561G>A | 5 | m |
15 | 3 | developmental retardation, abnormal gait | 2 | 28/20 | 0.02§ | c.-32-13T > G | c.2738C>G | 20 | m |
16 | 13 | muscle weakness | 0 | 82/75 | 0.9$ | c.-32-13T > G | c.-32-13T > G | 13 | m |
17 | 9 | limb girdle weakness | 7 (wheelchair aged 33 years) | 56/42 | 2.8$ | c.1076-22T > G | [c.1426C>A; c.1437+1G>A] | 34 | f |
18β | 12 | limb girdle weakness | 0 | 98/90 | 0.3$ | c.-32-13T > G | c.307T > G | 12 | f |
19 | 12 | limb girdle weakness | 0 | 108/105 | 1.0$ | c.-32-13T > G | c.1143delC | 25 | m |
20 | 13 | muscle weakness | 3 | 50/46 | 0.3$ | c.2014C>T | c.1703A>T | 25 | f |
21 | 15 | muscle weakness | 0 | 65/60 | 1.1$ | c.-32-13T > G | c.1441T>C | 17 | m |
22β | 16 | muscle weakness | 3 | 69/58 | 1.2$ | c.-32-13T > G | c.307T > G | 19 | f |
adult | |||||||||
23 | 12 | weakness of trunk muscles, scoliosis | 4 | 61/36 | 0.04§ | c.-32-13T > G | c.1799G>A | 48 | m |
24 | 18 | muscle weakness | 3 | 50/25 | 1.0$ | c.-32-13T > G | c.1143delC | 46 | m |
25 | 18 | muscle weakness | 2 | 53/30 | 1.2$ | c.-32-13T > G | c.701C>A | 52 | m |
26 | 20 | limb girdle weakness | 3 | 71/46 | 3.9$ | c.-32-13T > G | c.877G>A | 44 | f |
27α | 23 | limb girdle weakness | 4 (walking support aged 33 years) | 76/68 | 0.03§ | c.-32-13T > G | c.1291_1299delCTGCACCAG | 35 | m |
28 | 27 | limb girdle weakness | 6 (walking support aged 51 years) | 33/26 | 4.7$ | c.-32-13T > G | c.1802C>T | 53 | m |
29α | 29 | limb girdle weakness | 0 | 101/81 | 0.09§ | c.-32-13T > G | c.1291_1299delCTGCACCAG | 42 | f |
30 | 30 | limb girdle weakness | 3 | 98/90 | 1.2$ | c.-32-13T > G | c.525delT | 47 | f |
31 | 30 | limb girdle weakness | 3 | 66/25 | 1.8$ | c.-32-13T > G | c.2608C>T | 46 | f |
32 | 30 | backache | 1 | ? | 0.8$ | c.-32-13T > G | c.1005_1006insGG | 70 | m |
33 | 35 | limb girdle weakness | 3 | 43/19 | 4.1$ | c.-32-13T > G | c.1564C>G | 45 | m |
34 | 35 | limb and shoulder girdle weakness | 1 | 124/105 | 4.9$ | c.-32-13T > G | c.307T > G | 37 | f |
35 | 38 | limb girdle weakness | 6 (walking support aged 57 years) | 33/18 | # | c.-32-13T > G | c.2214G>A | 63 | f |
36 | 40 | limb girdle weakness | 6 (walking support aged 59 years) | 50/37 | 1.1$ | c.-32-13T > G | c.2205_2206insT | 70 | f |
37 | 47 | limb girdle myalgia | 3 | 120/119 | 2.8$ | c.-32-13T > G | c.2322_2323insGGTGAGTCTGCAAACGGGGAGT | 59 | f |
38 | 48 | limb girdle weakness | 6 (walking support aged 62 years) | 87/61 | 0.7$ | c.-32-13T > G | c.877G>A | 62 | f |
39 | 56 | limb girdle weakness, backache | 2 | 120/114 | 1.7$ | c.-32-13T > G | c.2237G>A | 69 | f |
40 | ? | ? | ? | ? | 1.5$ | c.-32-13T > G | c.1687_1688insCACC | 65 | f |
asymptomatic | |||||||||
41γ | - | asymptomatic | 0 | 95/98 | 0.4$ | c.-32-13T > G | c.525delT | 20 | f |
excluded from clinical analysis | |||||||||
42 | - | - | - | - | # | c.-32-13T > G | c.2481+102_2646+31del | 1 | m |