Table 2.

Reported cases with c.254 G > A mutation in the EIF2B2 gene

Patient Number/ Reference	Onset phenotype	Mutated Gene in EIF2B	Mutation on Genomic DNA	Amino Acid Change
1 [34]	Infantile	EIF2B2	T254A G922A	V85G V308 M
2 [35]	Early childhood	EIF2B2	T254A C995T	V85G A332V
3 [16]	Adult onset	EIF2B2	T254A	V85G
4 (the present patient)	Adult onset	EIF2B2	T254A A496G	V85G M166 V