Fig. 1

The patient’s pedigree is presented in accordance with standardized human pedigree nomenclature. Solid black indicates the phenotype of classical symptoms of PGK-1 deficiency (i.e., hemolytic anemia and myopathy). The checkerboard pattern indicates the phenotype of parkinsonism. Members with asterisks were neurologically examined by the authors. Cases 1 (III₁) and 2 (II₂) were also genetically and enzymatically examined. The results of genetic and enzymatic testing for PGK-1 are presented below these cases. X^mt and X⁺ indicate an allele with the c.1060G>C mutation and the wild-type allele on the X chromosome, respectively