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Table 1 Characteristics at first clinical evaluation at our centre of patients with LMNA mutations with and without neuromuscular onset

From: Differences in cardiac phenotype and natural history of laminopathies with and without neuromuscular onset

 OverallWith neurological OnsetWithout neurological onsetP value
Number of patients4014 (35)26 (65) 
Number of families3112 (39)19 (61) 
Males22 (55)7 (50)15 (58)0.744
Age at symptom onset, yrs33 (21–42)11 (8–30)39 (32–46)< 0.0001
Age at first contact at our center, yrs39 (29–74)31 (20–44)43 (36–49) 
Follow-up duration, months30 (6–70)24 (12–101)32 (8–63) 
Diagnostic pathway
 Signs or symptoms 12 (86)19 (73)0.452
 Screening 2 (14)7 (27) 
Cardiomyopathy24 (60)5 (36)19 (73)0.040
 Dilated CMP13 (32)2 (14)11 (42)0.089
 Hypokinetic non dilated CMP8 (20)2 (14)6 (23)0.688
 Restrictive CMP2 (5)02 (8)0.533
 Right ventricle CMP1 (2)1 (7)00.350
History of atrial fibrillation17 (42)6 (43)11 (42)1.000
Sinus node dysfunction4 (10)3 (21)1 (4)0.114
Atrio-ventricular block23 (57)6 (43)17 (65)0.197
 1st degree8 (20)2 (14)6 (23) 
 2nd degree7 (17)2 (14)5 (19) 
 3rd degree/high degree8 (20)2 (14)6 (23) 
Positive familial history for
 Sudden death7 (17)3 (21)4 (15)0.678
 PM implantation (high degree AVB)11 (27)3 (21)8 (30)0.715
 CMP16 (40)5 (36)11 (42)0.746
NYHA class III- IV7 (17)4 (28)3 (12)0.214
PM recipients8 (20)2 (14)6 (23)0.688
ICD recipients8 (20)1 (7)7 (27)0.221
  1. Values are expressed as N, N (%) or median (interquartile range)
  2. LMNA, EMD gene codifying for lamin A/C and emerin, respectively, ICD implantable cardioverter defibrillator, PM pacemaker, AVB atrio-ventricular block, NYHA New York Heart Association