Table E-1: Patient Demographics, cohort #1

Second / Haplotype / Age at / Age at / Present /

Disease

/ Wheelchair/
Mutation# / (Fig. 3) / onset / diagnosis / age* / duration± / Ventilator$
1 / c.525del / 78 / 84
2 / c.525del / 52 / 61 / 68 / 7 (16) / N/N
3 / c.525del / 59 / 70+ / 11
4 / c.2481+102_2646+31del / 59 / 81
5 / c.2161dup / 4a / 59 / 64 / 5
6 / c.925G>A / 5a / 58 / 68 / 10
7 / c.525del / 56 / 65
8 / c.2481+102_2646+31del / 54 / 79
9 / c.925G>A / 51 / 82
10 / c.2481+102_2646+31del / 7 / 50 / 65 / 15(58) / Y63/Y58
11 / c.2481+102_2646+31del / 4b / 49 / 58 / 9
12 / c.2481+102_2646+31del / 48 / 68 / 20 / Y51/N
13 / c.172C>T / 3b / 47 / 82
14 / c.776G>T / 5b / 47 / 52 / 5
15 / c.525del / 1 / 45 / 45 / 69 / 24 (24) / Y64/Y68
16 / c.953T>C / 27 / 45 / 53 / 8 (26) / Y51/Y49
17 / c.258dup / 4a / 44 / 49 / 5
18 / c.1548G>A / 2 / 43 / 65 / 22 / Y61/N
19 / c.525del / 4c / 43 / 46
20 / c.2481+102_2646+31del / 41 / 42 / 60 / 18 (19) / Y43/N
21 / c.1222A>G / 1 / 41 / 45 / 4
22 / c.525del / 1 / 40 / 57 / 17
23 / c.2269C>T / 1 / 40 / 45 / 5
24 / c.2608C>T / 1 / 39 / 39 / 0
25 / c.1827del / 1 / 37 / 38 / 59 / 21 (22) / N/Y41
26 / c.2242dup / 1 / 38 / 38 / 0
27 / c.2481+102_2646+31del / 37 / 63
28 / c.525del / 4c / 30 / 36 / 51 / 15 (21) / Y48/N
29 / c.1799G>A / 28 / 34 / 46 / 12 (18) / Y39/Y42
30 / c.525del / 33 / 36
31 / c.2072ins5 / 1 / 17 / 32 / 42 / 10 (25) / N/N
32 / c.525del / 32 / 36 / 4
33 / c.271del / 4b / 23 / 29 / 39 / 10 (16) / N/N
34 / c.2481+102_2646+31del / 4b / 27 / 29 / 62 / 33 (35) / Y53/N
35 / c.525del / 26 / 47 / 21 / N/N
36 / c.1796C>A / 4a / 26 / 31 / 5
37 / c.525del / 26 / 31 / 5
38 / c.1548G>A / 2 / 6 / 25 / 44+ / 19 (38) / N/Y26
39 / c.525del / 25 / 56
40 / c.1396G>T / 1 / 24 / 51+ / 27 / Y50/Y42
41 / c.525del / 4d / 18 / 20 / 37 / 17 (19) / N/Y36
42 / c.2331+2 T>A / 10 / 13 / 3
43 / c.1548G>A / 3b / 8 / 9 / 39 / 30 (31) / Y22/Y15
44 / c.307T>G + 271G>A / 2 / 7 / 13 / 6 (11) / N/N
45 / c.1441T>C / 4 / 4 / 15 / 11 (11) / N/N
46 / c.1724A>C / 4 / 12
47 / c.307T>G+271G>A / 2 / 3 / 23 / 20 (21) / Y21/Y18
48 / c.525del / 5c / 3 / 18 / 15
49 / c.1100G>A / 1 / 2 / 3 / 26 / 23 (24) / Y18/Y19
50 / c.525del / 1 / 3 / 16 / 13 (15) / N/Y14
51 / c.1115A>T / 1 / 2 / 8 / 6
52 / c.2135T>C / 1 / 2 / 3 / 1 (2) / N/N
53 / c.2481+102_2646+31del / 4b / 1 / 27 / 26
54 / c.923A>C / 1 / <1 / 1 / 9 / 8 (9) / N/N
55 / c.525del / <1 / 16 / 16 / N/N
56 / c.525del / <1 / 9 / 9

# Novel mutations are printed in bold

* Present age in years was calculated from the date of birth and is printed in bold for those patients known

to be still alive. The tentative age is listed for those patients not known to be still alive

+ Patient 3 died at the age of 70, patient 38 at the age of 44 and patient 40 at the age of 51 years

± Disease duration is the difference between present age and age at diagnosis. The figures between brackets indicate the difference between present age and age at onset

$ N: not wheelchair bound or not ventilator dependent

Y: wheelchair bound or ventilator dependent; the figures indicate age at first use

This patient was diagnosed because of affected brother

mailto: