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Table 1 Clinical characteristics of ARVC subjects with mutations in desmosomal genes

From: Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy

ARVC diagnostic criteria Criteria fulfilled Subject
   Family I.1 Family II.1 Family II.2 Family III.1 Family III.2 Family IV.1
Sex   M M M F M M
Age at diagnosis (years)   41 20 17 35 18 16
Global and regional dysfunction and structural alterations Major 1 1 1   1 1
  Minor     1   
Tissue characterization Major    1   NA  
  Minor       
Repolarization abnormalities Major      NA  
  Minor       
Depolarization/conduction abnormalities Major      NA  
  Minor       
Arrhythmias Major 1 1 1   NA 1
  Minor       
Family history Major   1 1 NA NA  
  Minor       
Mutation   DSG2, c. 208A > G (Ile70Val), PKP2a, c.397 C > T (Gln133*) DSC2, C.1234-35insA,(p.Thr412Asnfs*2) DSC2, C.1234-35insA, (p.Thr412Asnfs*2) PKP2, c.2540 delT, (p.Leu847Argfs*83) PKP2, c.2540 delT, (p.Leu847Argfs*83) PKP2, C.2197-2202delinsG, (p.His733Alafs*8)
Predicted functional effect   DSG2, Ile70Val, Benign      
Mutation screening in 150 normal healthy controls   Absent Absent Absent Absent Absent ND (reported earlier)
  1. M, male; F, female; NA, not available; ND, Not determined; †, novel mutations reported in this study; numbering, number of major or minor criteria filled