Clinical data and eIF2B GEF activity measured in lymphoblasts from the 63 eIF2B-mutated patients.

a* = Familial form: two affected children in the same family; underlined: new patients whose genotype has not been reported in our previous studies [5], [13].bscore of disability as previously described [5]: 0: no neurologic signs, 1: stiff gait, 2: walk with help, 3: wheelchair-bound, 4: help for daily living, 5: death.cAmino-acid numbers refer to the eIF2B peptide corresponding sequence.? = mutation not yet identified.dExpressed as % control value ± standard deviation (assays performed in triplicate); underlined: new eIF2B GEF activity measured and not reported in [13].eAsialotransferrin ratio (AT) in % already described [11], [12]. NA: Not available.