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Table 1 Symptoms and manifestations in p.A143T patients and patients with missense GLA mutations

From: Alpha-Galactosidase A p.A143T, a non-Fabry disease-causing variant

  p.A143T Fabry patients Missense mutation patients
  Total (n = 25) Female (n = 15) Male (n = 10) Total (n = 58) Female (n = 39) Male (n = 19)
gastrointestinal pain, n 12 (48.0) 8 (53.3)* 4 (40.0) 11 (20.0) 6 (16.2) 5 (27.8)
diarrhea, n 8 (32.0) 6 (40.0)** 2 (20.0) 5 (9.1) 2 (5.4) 3 (16.7)
tinnitus, n 7 (29.2) 4 (28.6) 3 (30.0) 6 (10.7) 6 (16.2) 0 (0.0)
neuropathic pain, n 7 (28.0) 4 (26.7) 3 (30.0) 26 (45.6) 18 (47.4) 8 (42.1)
hypohidrosis, n 6 (24.0) 4 (26.7) 2 (20.0) 18 (32.1) 11 (29.0) 7 (38.9)
fatigue, n 5 (20.0) 4 (26.7) 1 (10.0) 10 (18.9) 8 (23.5) 2 (10.5)
hypacusis, n 3 (12.5) 1 (7.1) 2 (20.0) 5 (8.8) 5 (13.2) 0 (0.0)
dyspnea, n 3 (12.0) 3 (20.0) 0 (0.0) 12 (21.1) 8 (21.1) 4 (21.1)
edema, n 1 (4.2) 1 (6.7) 0 (0.0) 2 (3.6) 0 (0.0) 2 (10.5)
cornea verticillata, n 0 (0.0) 0 (0.0) 0 (0.0) 9 (19.6) 8 (29.6)* 1 (5.3)
LVEF, % 63.1 ± 6.4 60.9 ± 6.2 66.2 ± 5.6 63.2 ± 9.6 64.5 ± 9.8 60.6 ± 8.8
  1. Values are given as mean ± SD for continuous data or n (%) for categorical data. Continuous values were compared using unpaired Student’s t test and categorical values have been tested with Fisher’s exact test (both two-sided). LVEF: left ventricular ejection fraction. Patients have been gender-specific compared. *p < 0.05, **p < 0.01