Table 1.
ID | Sex | Age (years) | Mutation |
---|---|---|---|
PAT001_DRAV | Female | 4 | c.4168G>A (p.Val1390Met) |
PAT001_GEFS | Female | 10 | c.2576G>A (p.Arg859His) |
FAM001_FS | Male | 49 | c.3926T>G (p.Leu1309Arg) |
FAM001_GEFS | Female | 14 | c.3926T>G (p.Leu1309Arg) |
FAM001_DRAV | Male | 16 | c.3926T>G (p.Leu1309Arg) |