Table 4

 Associations between the genotype and clinical characteristics

Genotype/phenotypeAge at onset <6 monthsChronic courseFamily historyNeurological involvementSevere neurological involvementMusculoskeletal involvementSevere musculoskeletal involvementHearing lossCold trigger
R260W n=36
n (%)11 (30.6)15 (41.7)32 (91.4)15 (41.7)2 (5.6)33 (91.7)0 (0)12 (33.3)17 (47.2)
p0.040.03<0.001*0.90.240.250.340.23<0.001*
T348M n=20
n (%)14 (70)17 (85)11 (57.9)11 (55)0 (0)15 (75)0 (013 (68.4)2 (10)
p0.01*0.007*0.960.150.130.160.590.01*0.09
V198M n=13
n (%)5 (38.5)8 (61.5)8 (66.7)1 (7.7)0 (0)11 (84.6)1 (7.7)4 (30.8)3 (23)
p0.630.750.760.01°0.3610.460.41
A439 V n=14
n (%)5 (35.7)6 (42.9)13 (92.9)1 (7.1)0 (0)12 (85.7)0 (0)1 (7.1)7 (50)
p0.470.250.006*0.007°0.37110.005°0.04
E311 K n=9
n (%)2 (22.2)5 (55.6)8 (88.9)0 (0)0 (0)9 (100)0 (0)6 (66.7)0 (0)
p0.1910.080.01°0.60.3610.160.11
D303N n=5
n (%)2 (40)2 (40)0 (0)4 (80)1 (20)5 (100)0 (0)3 (60)1 (20)
p10.650.01°0.160.47110.651
Q703 K n=9
n (%)0 (0)3 (33.3)0 (0)3 (33.3)0 (0)7 (77.8)0 (0)0 (0)2 (22.2)
p0.004°0.170.001°0.740.60.6110.01°1
No mutation n=3
n (%)3 (100)3 (100)0 (0)3 (100)3 (100)3 (100)1 (33.3)1 (33.3)0 (0)
p0.090.260.070.060.001*10.1310.57
Other mutation (n=27)
n (%)19 (70.4)19 (70.4)4 (16)17 (63)10 (37)21 (80.8)4 (14.8)16 (61.5)2 (7.4)
p0.003*0.13<0.001°0.008*<0.001*0.40.01*0.020.02
Total: n (%)61 (44.9)78 (57.4)76 (58.5)55 (40.4)16 (11.8)116 (85.9)6 (4.4)56 (41.8)34 (25)
  • Patients bearing the mutation of interest were compared with the other patients of the cohort in regards to their status for 9 clinical variables, using a χ2 squared or Fisher test, according to the effectives. A p value of 0.01 or less was considered significant. p Values are highlighted in bold with (*) or (°) in case of a significant positive or negative association between a given clinical item and a specific genotype, respectively.