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Table 22 MECP2 mutations and clinical forms

From: Rett syndrome: a wide clinical and autonomic picture

Mutations Classical Atypical Tot %
  Z-RTT ARTT-NOS   
Substitutions      
 Non sense 29 1 1 31 26 %
 Early truncating 22 1 23  
 Late truncating 7 1 8  
 Missense 29 9 4 42 36 %
Large Deletions 17 17 14 %
 Frameshift 19 8 1 28 24
C terminal deletions 12 7 19  
  94 18 6 118 100 %