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Table 2 Characteristics of 126 hATTR cases

From: Clinical phenotypes and genetic features of hereditary transthyretin amyloidosis patients in China

  All Gly83Arg Val30Met Val30Ala Leu55Arg Ala36Pro Lys35Thr Gly47Arg Asp18Gly Gly47Glu Ala117Ser Othera
(p.Gly103Arg) (p.Val50Met) (p.Val50Ala) (p.Leu75Arg) (p.Ala56Pro) (p.Lys55Thr) (p.Gly67Arg) (p.Asp38Gly) (p.Gly67Glu) (p.Ala137Ser)
N 126 25 20 10 9 9 8 6 6 6 4 23
% of samples 100.0% 19.8% 15.9% 7.9% 7.1% 7.1% 6.3% 4.8% 4.8% 4.8% 3.2% 18.3%
% Male 87 (69.0%) 13 (52.0%) 15 (75.0%) 4 (40.0%) 7 (77.8%) 7 (77.8%) 5 (62.5%) 5 (83.3%) 4 (66.7%) 6 (100.0%) 3 (75.0%) 18 (78.3%)
% Family history 104 (82.5%) 25 (100.0%) 11 (55.0%) 10 (100.0%) 9 (100.0%) 6 (66.7%) 8 (100.0%) 5 (83.3%) 6 (100.0%) 6 (100.0%) 2 (50.0%) 16 (69.6%)
Age at presentation onset, years 41.8 (SD: 8.9) 39.4 (SD: 4.1) 47.0 (SD: 8.6) 33.0 [IQR: 9.5] 33.9 (SD: 5.4) 40.0 [IQR: 19.0] 44.3 (SD: 2.9) 29.5 [IQR: 8.0] 31.0 [IQR: 14.5] 40.0 (SD: 6) 60.8 (SD: 4.8) 40.3 (SD: 8.2)
Late -onset, n (%) 23 (18.3%) 9 (36.0%) 6 (30.0%) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (100.0%) 4 (17.4%)
Time from presentation onset to diagnosis, years 5.9 (SD: 3.6) 8.5 (SD: 5.3) 8.6 (SD: 2.3) 2.0 [IQR: 4.0] 6.3 (SD: 2.3) 2 (SD: 0.9) 2.4 (SD: 0.6) 3 (SD: 0.8) 4.5 (SD: 0.5) 3.5 (SD: 0.5) 3.5 (SD: 1.5) 4.6 (SD: 2.9)
Age at Death, years 47.2 (SD: 10.2)   54.3 (SD: 3.8) 37.0 [IQR: 5.5] 58.0 [IQR: 15.0] 58.7 (SD: 1.8) 57.7 (SD: 3.1) 33.0 [IQR: 4.0] 39 (SD: 4.0) 45.5 (SD: 6.5) 39 [IQR: 4.0]
Time from presentation Onset to death, years 7.5 [IQR: 5.3] 8.7 (SD: 0.6) 4.0 [IQR: 4.0] 27.0 [IQR: 16.0] 10 (SD: 1.3) 12.7 (SD: 4.0) 4.7 [IQR: 1.5] 6.0 [IQR: 13.5] 4.5 [IQR: 1.0] 4.5 [IQR: 1.0]
  1. a Genotypes with no more than 3 subjects.including Phe33Val (three subjects); Glu54Lys, Phe33Leu, Val50Leu, Thr49Ala, Leu75Pro (two subjects each), Tyr114Cys, Ile107Met, Lys35Asn, Asp38Val, Gly53Glu, Glu54Gln, Glu42Gly, Tyr116Ser, Phe84Ser, Glu74Lys (one subject each); For descriptive analysis, mean and standard deviation (SD) were calculated for normal distribution, while median and inter-quartile range [IQR] were calculated for abnormal distribution