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 |