Table 1.
Demographic features of controls and patients.
Subject | NBB Reference No. | Age at Death | Molecular Diagnosis |
---|---|---|---|
Control 1 | 2003–085 | 24 years | - |
Control 2 | 2017–029 | 23 years | - |
Control 3 | 2018–010 | 21 years | - |
Control 4 | 2018–066 | 35 years | - |
VWM 1 | - | 29 years | ε, Thr91Ala/Thr91Ala * |
VWM 2 | - | 10 years | ε, Arg113His/Ala403Val * |
VWM 3 | - | 6 years | ε, Thr91Ala/Val437Met * |
VWM 4 | - | 12 years | ε, Thr91Ala/Ala403Val * |
* Mutation: mutant eIF2B subunit and amino acid changes are indicated.