Table 2.
Patient ID | Age at sample collection, y | Clinical score | Protein expression | Exon location | Auto antibody |
---|---|---|---|---|---|
P1 | 17 | 75 | Absent | 19-48 exon het del, | None |
c.5842 delG,c.5843C>A | |||||
p.A1948fsX1953 | |||||
P2 | 17 | 62 | Absent | Exon 11 hom del. Exon 12-33 het del | None |
P3 | 9 | 45 | Absent | c.1278-1279 delTG p.V427fsX435 | None |