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Table 1 Global Distribution of Reviewed ATTR-PN Cases, n (%)

From: Epidemiological and clinical characteristics of symptomatic hereditary transthyretin amyloid polyneuropathy: a global case series

Country Country Total Ala97Ser Phe64Leu Ser77Tyr Val30Met Other
France 97 (17.9%) 0 (0%) 0 (0%) 33 (34%) 47 (48.5%) 17 (17.5%)
Japan 92 (17%) 0 (0%) 0 (0%) 0 (0%) 76 (82.6%) 16 (17.4%)
China 71 (13.1%) 2 (2.8%) 0 (0%) 12 (16.9%) 23 (32.4%) 34 (47.9%)
Italy 58 (10.7%) 0 (0%) 24 (41.4%) 0 (0%) 21 (36.2%) 13 (22.4%)
Taiwan 35 (6.5%) 33 (94.3%) 0 (0%) 1 (2.9%) 0 (0%) 1 (2.9%)
Germany 26 (4.8%) 0 (0%) 0 (0%) 0 (0%) 13 (50%) 13 (50%)
Spain 19 (3.5%) 0 (0%) 0 (0%) 0 (0%) 8 (42.1%) 11 (57.9%)
Portugal 18 (3.3%) 0 (0%) 0 (0%) 0 (0%) 16 (88.9%) 2 (11.1%)
Greece 17 (3.1%) 0 (0%) 0 (0%) 0 (0%) 17 (100%) 0 (0%)
Israel 17 (3.1%) 0 (0%) 0 (0%) 8 (47.1%) 4 (23.5%) 5 (29.4%)
Sweden 14 (2.6%) 0 (0%) 0 (0%) 0 (0%) 5 (35.7%) 9 (64.3%)
Ireland 12 (2.2%) 0 (0%) 0 (0%) 0 (0%) 0 (0%) 12 (100%)
Argentina 11 (2%) 0 (0%) 0 (0%) 0 (0%) 8 (72.7%) 3 (27.3%)
Turkey 11 (2%) 0 (0%) 0 (0%) 0 (0%) 4 (36.4%) 7 (63.6%)
Brazil 8 (1.5%) 0 (0%) 0 (0%) 0 (0%) 8 (100%) 0 (0%)
United States 6 (1.1%) 0 (0%) 0 (0%) 0 (0%) 1 (16.7%) 5 (83.3%)
Australia 3 (0.6%) 0 (0%) 0 (0%) 0 (0%) 0 (0%) 3 (100%)
Belgium 3 (0.6%) 0 (0%) 0 (0%) 0 (0%) 3 (100%) 0 (0%)
Finland 3 (0.6%) 0 (0%) 0 (0%) 0 (0%) 0 (0%) 3 (100%)
Poland 3 (0.6%) 0 (0%) 0 (0%) 0 (0%) 0 (0%) 3 (100%)
Romania 3 (0.6%) 0 (0%) 0 (0%) 0 (0%) 0 (0%) 3 (100%)
Korea (South) 2 (0.4%) 0 (0%) 0 (0%) 0 (0%) 0 (0%) 2 (100%)
Russia 2 (0.4%) 0 (0%) 0 (0%) 0 (0%) 0 (0%) 2 (100%)
Slovenia 2 (0.4%) 0 (0%) 0 (0%) 0 (0%) 0 (0%) 2 (100%)
Switzerland 2 (0.4%) 0 (0%) 0 (0%) 0 (0%) 1 (50%) 1 (50%)
Czech Republic 1 (0.2%) 0 (0%) 0 (0%) 0 (0%) 0 (0%) 1 (100%)
Denmark 1 (0.2%) 0 (0%) 0 (0%) 0 (0%) 1 (100%) 0 (0%)
Holland 1 (0.2%) 0 (0%) 0 (0%) 0 (0%) 1 (100%) 0 (0%)
India 1 (0.2%) 0 (0%) 0 (0%) 0 (0%) 0 (0%) 1 (100%)
Malaysia 1 (0.2%) 0 (0%) 0 (0%) 0 (0%) 0 (0%) 1 (100%)
Norway 1 (0.2%) 0 (0%) 0 (0%) 0 (0%) 1 (100%) 0 (0%)
United Kingdom 1 (0.2%) 0 (0%) 0 (0%) 0 (0%) 0 (0%) 1 (100%)
Genotype Total 542 (100%) 35 (6.5%) 24 (4.4%) 54 (10%) 258 (47.6%) 171 (31.5%)
  1. Specific genotypes shown are those with ≥4% representation among the included cases. Genotypes with < 4% representation are listed as “Other”. Refer to Additional file 1: Appendix A for a list of genotypes included in the “Other” category