Genotyping in patients with hereditary amyloidosis
| Gene . | Age (y) at diagnosis . | Exon . | Mutation . |
|---|---|---|---|
| TTR | 70 | 2 | V30M |
| 54 | 2 | V30M | |
| 69 | 2 | V30M | |
| 56 | 2 | V30M | |
| 54 | 2 | V30M | |
| 67 | 3 | T60A | |
| 74 | 4 | I107V | |
| 53 | 2 | Ala19Asp* | |
| FGA | 68 | 5 | M584L |
| 50 | 5 | E526V | |
| 61 | 5 | E526V | |
| 61 | 5 | E526V | |
| APOA1 | 54 | 4 | L75P |
| 38 | 4 | L75P |
| Gene . | Age (y) at diagnosis . | Exon . | Mutation . |
|---|---|---|---|
| TTR | 70 | 2 | V30M |
| 54 | 2 | V30M | |
| 69 | 2 | V30M | |
| 56 | 2 | V30M | |
| 54 | 2 | V30M | |
| 67 | 3 | T60A | |
| 74 | 4 | I107V | |
| 53 | 2 | Ala19Asp* | |
| FGA | 68 | 5 | M584L |
| 50 | 5 | E526V | |
| 61 | 5 | E526V | |
| 61 | 5 | E526V | |
| APOA1 | 54 | 4 | L75P |
| 38 | 4 | L75P |
Data are all amyloidogenic mutations detected in 14 patients with a hereditary amyloidosis. All patients are unrelated.
New amyloidogenic mutation.