A new variant of phosphoglycerate kinase deficiency (p.I371K) with multiple tissue involvement: Molecular and functional characterization

► We report a case of PGK deficiency with anemia, myopathy and neurologic dysfunctions. ► Molecular and functional characterization of the new mutant that causes this deficiency, I371K, have been performed. ► The enzyme showed highly perturbed catalytic properties and protein instability. ► The molecular properties have been correlated with the clinical phenotype. ► Data obtained increase knowledge in genotype-phenotype correlation of rare diseases.