Distribution of genotypes
| Sample group | Normal,n (%) | Carrier maternal mutation,n (%) | Carrier paternal mutation,n (%) | Affected,n (%;95% CI) | p* |
|---|---|---|---|---|---|
| *Binomial distribution p(X⩾% affected). | |||||
| All samples | 19 (20) | 22 (24) | 20 (22) | 31 (34;24 to 44) | 0.039 |
| Families with mutations F119L and R141H | 7 (17) | 8 (19) | 11 (26) | 16 (38;23 to 54) | 0.041 |