Family code | Diagnosis | Gene | Mutation | |
---|---|---|---|---|
(nucleotide change) | (amino acid change) | |||
30_1 | Inherited AD | PSEN2 | NM_000447.3: c.717G>A | M239Ia |
36_1 | IBMPFD | VCP | NM_007126.5: c.277C>T | R93Cb |
L029 | Inherited FTD | GRN | NM_002087.3: c.813_816del | Thr272fsc |
L031 | Inherited AD | PSEN2 | NM_000447.3: c.717G>A | M239Ia |
L035 | Inherited FTD | MAPT | NM_005910.5: c.915+3G>A | IVS10+3G>Ad |
L036 | Inherited AD | PSEN1 | NM_000021.4: c.1129A>T | R377We |