Note: The original file submitted is modified to provide links to the results.
X-LINKED MYOTUBULAR MYOPATHY IN N. AMERICANS 117
TABLE 1. Summary of MTM1 Mutations in 50 North American Patients
Fam Mother
Patienta Hxb Exon Mutationc Amino acid Uniqued Severitye carrierf Notes
Missense mutations (16)
1 U 2 c.2T>G M1R + S Patient 5 in Herman et al. [1999]
2 U 4 c.145G>T V49F + S
3 No 4 c.205C>T R69C 4 Mg Yes
4 No 8 c.535C>T P179S 1 M
5 U 8 c.557C>T T186I + ?S
6 No 8 c.614C>T P205L 5 ?S No
7 U 8 c.614C>T P205L 5 S
8 ?U 9 c.679G>A V227M 1 Mg
9 No 9 c.683T>C L228P + Mo Yes
10 No 9 c.721C>T R241C 8 M Yes
11 S 9 c.836C>G A279G + S
12 No 11 c.1132G>A G378R 2 S Yes
13 ? 11 c.1172T>C L391P + ?
14 No 11 c.1190A>G Y397C 3 S Yes
15 No 11 c.1204G>A G402R 1 S No
16 ?No 12 c.1262G>A R421Q 5 S
Nonsense mutations (9)
17 No 3 c.85C>T R29X 2 S Yes
18 U 3 c.109C>T R37X 6 Mo
19 No 4 c.142G>T E48X 1 Mo Yes Patient 12 in Herman et al. [1999]
20 No 4 c.181G>T G61X + S Yes
21 No 12 c.1261C>T R421X 5 S No
22 No 12 c.1261C>T R421X 5 S Yes
23 U 12 c.1261C>T R421X 5 S
24 U,S 13 c.1420C>T R474X 3 S
25 No 13 c.1456C>T R486X 1 S Yes Patient 32 in Herman et al. [1999]
Splicing mutations (12)
26 No Intron 2 c.63+2T>C Donor splice site, exon 2 skippingh + M Yes Patient 4 in Herman et al. [1999]
27 No Intron 2 c.64-2A>G Acceptor splice site + S Yes
28 S Intron 3 c.137-7T>G Exon 4 skippingh + Mo Patient 6 in Herman et al. [1999]
29 No Intron 4 c232-3C>A Acceptor splice site + S Yes
30 ? Intron 4 c.232-2A>C Acceptor splice site + ?
31 No Intron 7 c.528+1G>A Donor splice site, frameshift 149i 2 S Yes Patient 18 in Herman et al. [1999]
32 No Intron 7 c.528+1G>A Donor splice site 2 S Yes
33 No Intron 11 c.1261-10A>G FIQ420-421ins 16 S Yes
34 U,S Intron 11 c.1261-10A>G FIQ420-421ins 16 S
35 No Intron 12 c.1353+1G>A Donor splice site 1 S Yes
36 No Intron 12 c.1354-1G>A Acceptor splice site + Mo Yes Patient 33 in Herman et al. [1999]
37 No Intron 13 c.1467+1G>A Donor splice site + S Yes

ET AL.
TABLE 1. Continued
Fam Mother
Patienta Hxb Exon Mutationc Amino acid Uniqued Severitye carrierf Notes
Small deletions/insertions (10)
38 U 3 c.106delC Frameshift 36 + S
39 ?U 4 c.141-142insG Frameshift 48 + S
40 No 7 c.465delT Frameshift 155 + S Yes
41 ?U 7 c.469delG Frameshift 157 + S
42 S 8 c.593-594insA Y198X + S
43 No 7 c.445-1insGAAA Frameshift 149h + S Yes Patient 19 in Herman et al. [1999]
44 No 8 c.601delT Frameshift 202 + S Yes
45 No 10 c.969insA Frameshift 322-324 1 S
46 U 10 c.1015insT Frameshift 339 + S
47 No 15 c.1789delC Frameshift 598 + M Yes