Patient No | Phenotype | Ind. walking (years) | Aided walking (years) | Wheelchair use (years) | Exon | Nucleotide change | Protein change | Mutation | Novel | State | Sporting and physical fitness before onset |
1 | LGMD2B | 26 (6) | 12 | c.1165_1178dup GAGGACTTGCCGCA | Duplication | Yes | Homo | No problems as child | |||
2 | LGMD2B | 11 | c.1016C>G | p.Thr339Arg | Missense | No | Het | No problems, worked as carpenter | |||
45 | c.4968_4972dup | p.Lys1658ThrfsX55 | Duplication | No | Het | ||||||
3 | LGMD2B | 36 (16) | 14 (intron 13) | c.1285-2 A>G | Splice | Yes | Homo | Very successful athlete in mid teens | |||
4 | LGMD2B | 50 (30) | 38 | c.4022 T>C, | p.Leu1341Pro | Missense | No | Homo | No problems as child | ||
5 | MM | 3 | c.175delC | p.Leu59TrpfsX92 | Nonsense | Yes | Homo | Thai boxing, and football | |||
6 | LGMD2B | 50 (43) | 29 | c.3112 C>T | p.Arg1038X | Nonsense | No | Homo | Normal in sports until age 10 | ||
7 | LGMD2B | 32 (12) | 37 | 3992G>T | p.Arg1331Leup.Gln1946TrpfsX19 | Missense | No | Homo | No data available | ||
52 | c.5836_5839delCAGC | Deletion | No | Het | |||||||
8 | MM | Occ. 65 (40) | 27 | c.2875C>T | p.Arg959Trp | Missense | No | Het | Played rugby and joined the army | ||
32 | c.3517dupT | p.Ser1173PhefsX2 | Duplication | No | Het | ||||||
9 | LGMD2B | 42 (22) | 9 | c.895 G>T | p.Gly299Trp | Missense | Yes | Homo | No problems until age 20 | ||
10 | LGMD2B | 39 | c.4200dupC | p.Ile1401HisfsX7 | Nonsense | No | Het | No problems | |||
25 (intron 24) | c.2643+2T>C | Splice | Yes | Het | |||||||
11a | MM | 17 (6) | 2 | c.107_108 del AA | p.Ser36fsX11 | Deletion | No | Het | Keen horse rider | ||
28 | c.3028C>T | p.Gln1010X | Nonsense | Yes | Het | ||||||
11b | MM | 13 (5) | 2 | c.107_108 del AA | p.Ser36fsX11 | Deletion | No | Het | Keen dancer | ||
28 | c.3028C>T | p.Gln1010X | Nonsense | Yes | Het | ||||||
12a | LGMD2B | 37 (25) | 8 | c.827delA | p.Glu276GlyfsX11 | Deletion | Yes | Het | Slower than his peers | ||
20 | c.1861G>A | p.Gly621Arg | Missense | No | Het | ||||||
12b | Symptomatic carrier | 38 (2) | 8 | c.827delA | p.Glu276GlyfsX11 | Deletion | Yes | Het | Played football well, postman | ||
13 | LGMD2B | 39 (21) | 30 | c.3191_3196dup | p.Ala1064_Glu1065dup | Duplication | No | Het | Very fit and sporty, stronger and faster than peers | ||
31 | c.3349-2A>G | Splice | Splice | Yes | Het | ||||||
51 | c.5698_5699del | p.Ser1900fsX14 | Deletion | No | Het | ||||||
14 | MM | 35 (10) | 37 | c.3992 G>T | p.Arg1331Leu | Missense | No | Het | Very strong with lots of muscle training | ||
39 | c.4200dupC | p.Ile1401HisfsX7 | Duplication | No | Het | ||||||
15 | Stiffness | 81 (8) | 11 | c.1053+5 G>A | Splice | No | Het | Keen dancer | |||
41 | c.4411-5 C>G | Splice | No | Het | |||||||
16 | MM | 41 (31) | 7 | c.664-9_667del GGCTTTCAGATCA | Splice | No | Het | Competitive dance school | |||
27 | c.2837delA | p.His94ProfsX | Deletion | No | Het | ||||||
17 | MM | 31 (9) | 12 | c.1167_1180dup | p.V398X | Nonsense | Yes | Homo | Always one of the slowest with running | ||
18 | LGMD2B | 36 (4) | 53 | c.5979dupA | p.Glu1994ArgfsX3 | Duplication | No | Het | Good at sports | ||
43 | c.4684dupA | p.Met1562AsnfsX39 | Duplication | Yes | Het | ||||||
19 | MM | 39 (8) | 32 | c.3517dupT | p.Ser1173PhefsX2 | Nonsense | No | Homo | Very active and athletic | ||
20 | MM | 29 (19) | 34 | c.3832C>T | p.Gln.1278X | Nonsense | No | Het | Captain of school football team | ||
53 | c.5979dupA | p.Glu1993ArgfsX3 | Duplication | No | Het | ||||||
21 | LGMD2B | 63 (30) | 34 | c.3773delT | p.Phe1258SerFsX2 | Deletion | Yes | Homo | No problems | ||
22a | LGMD2B | 30 (2) | 15 | c.1354-1 G>A | Splice | No | Het | Good strength, worked as joiner | |||
52 | c.5835_5838delCCAG | p.Gln1946TrpfsX18 | Deletion | No | Het | ||||||
22b | LGMD2B | 15 | c.1354-1 G>A | Splice | No | Het | Good muscle strength | ||||
52 | c.5835_5838delCCAG | p.Gln1946Trp fsX18 | Deletion | No | Het | ||||||
23 | LGMD2B | 48 (23) | 46 | c.5871_5872delGT | p.Ser1958ProfsX2 | Deletion | No | Het | No problems | ||
24 | LGMD2B | 22 (14) | 19 | c.1642delG | p.Glu548LysfsX79 | Nonsense | No | Homo | Normal until age 8 | ||
25 | MM | 27 (7) | 48 | c.5341-1 G>A | Splice | Yes | Homo | Not a fast runner | |||
12 | c.1120G>C | p.Val374Leu | Missense | No | Het | ||||||
26 | MM | 20 (2) | 37 | c.3992 G>T | p. Arg1331Leu | Missense | No | Het | Good at sports, gymnastics, hockey, ballet, dancing | ||
31 | c.3444_3445delinsAA | p.Tyr1148X | Insertion | No | Het | ||||||
27 | LGMD2B | 6 | c.509C>A | p.Ala170Glu | Missense | No | Homo | Normal | |||
7 | c.691C>T | p.Glu231X | Nonsense | No | Het | ||||||
28a | LGMD2B | 30 (7) | 51 | del5698-5699delGA | p.Glu1899fsX15 | Deletion | Yes | Het | Quick runner, good at football | ||
28b | LGMD2B | 25 (2) | 51 | del5698-5699delAG | p.(Ser1900fsX14) | Deletion | No | Het | Markedly sporty at school | ||
29 | LGMD2B | 23 | c.2163-1G>T | Splice | Yes | Homo | Sporty, played basketball | ||||
30 | PD | 16 (0) | 28 | c.3031 G>C | p.Gly1011Arg | Missense | Yes | Het | Fit before onset | ||
8 | c.855+1delG | Splice | No | Het | |||||||
31 | LGMD2B | 23 (13) | 11 | c.1020C>A | p.Ser340Arg | Missense | No | Het | Fit before onset | ||
44 | c.4883 G>T | p.Gly1628Val | Missense | Het | |||||||
32 | LGMD2B | 20 (4) | 26 | c.2659 A>T | p.Lys887X | Nonsense | Yes | Het | Sporty, cross country running, dancing | ||
51 | c.5668-7 G>A | Splice | No | Het |
LGMD, limb girdle muscular dystrophy; MM, Miyoshi myopathy; PD, proximodistal.