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Table 3 Presentation distributions of 126 hATTR cases

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

Feature 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
Cardiologic 39 (30.95%) 1 3 10 0 2 0 6 0 4 2 11
Autonomic 73 (57.94%) 0 20 10 4 4 0 6 0 5 3 21
Sensory/Motor 91 (72.22%) 10 20 10 4 7 6 6 1 5 4 18
Visual 63 (50.00%) 25 1 1 9 7 7 3 0 0 0 10
Other 18 (14.29%) 0 0 4 2 0 0 2 5 0 0 5
Skin problem 3 (2.38%) 0 0 1 0 0 0 0 0 0 0 2
Neuropsychiatric problem 6 (4.76%) 0 0 0 0 0 0 0 5 0 0 1
Hearing loss 5 (3.97%) 0 0 2 2 0 0 0 1 0 0 0
Leptormeningeal enhancement 7 (5.56%) 0 0 1 0 0 0 2 2 0 0 2
Main
Neurological 58 (46.03%) 9 17 0 4 4 6 0 6 0 2 10
Cardiac 3 (2.38%) 0 1 0 0 0 0 0 0 0 0 2
Mixed 38 (30.16%) 1 2 10 0 2 0 6 0 4 2 11
  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)