The variant c.1114G > A (p.G372S) is the first mutation associated with a myopathic form of PGK1 deficiency in the Spanish population; two other Spanish patients who were previously reported with PGK1 deficiency with different mutations in the PGK1 gene presented hemolytic anemia and CNS involvement, with no signs of myopathy (Table 1). This evidence concerns the gene PGK1 and myopathy.