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. 2012 Oct 10;21(5):535–539. doi: 10.1038/ejhg.2012.221

Table 1. Summary of cardiac status and mutation type in published cases of individuals with NFNS (n=35 individuals).

  Yes No Overall
Mutation identified 30 5 35
Intragenic mutation 29 1 (Large deletion) 30
Known cardiac status of individuals with intragenic mutation 28 1 29
Individuals with known cardiac status and truncating mutations 16 12 (Non-truncating mutations) 28
PS among individuals with truncating mutations 1 15 16
PS among individuals with non-truncating mutations 8 4 12