TABLE 1.
Control a | Carrier | Affected | |
---|---|---|---|
N | 10 | 2 | 4 |
Sex (F/M) | 4/6 | 2/0 | 0/4 |
Age at biopsy (y) | 12.1 (mean) ± 15.4 (sd) | 38.5, 47.6 | 34.5 (mean) ± 17.3 (sd) |
MAOA genotype (transcript NM_000240.3) | wt(/wt) | c.886C>T, p.Gln296Ter/wt | c.886C>T, p.Gln296Ter (n = 3); c.1336G> A, p.(Glu446Lys) (n = 1) |
Includes the unaffected father of one of the patients.
Abbreviation: sd, standard deviation.