title: Molecular genetic heterogeneity of phosphoglycerate kinase (PGK) deficiency.
abstract: Phosphoglycerate kinase (PGK; EC 2.7.2.3) is a glycolytic enzyme encoded by a single gene on the X chromosome and ubiquitously expressed. Hereditary PGK deficiency can cause hemolytic anemia, central nervous system dysfunction, and/or myopathy characterized by exercise intolerance, cramps, and myoglobinuria. So far, 20 PGK variants with reduced PGK activity have been identified, 8 of them in patients with myopathy. Six missense mutations and one splice-junction mutation have been identified in 7 patients, 2 of whom had myopathy. However, the biochemical and molecular bases for clinical heterogeneity in PGK deficiency remain unknown.
authors.affiliation: H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia-Presbyterian Medical Center, New York, NY 10032, USA.
authors.forename: S
authors.initials: S
authors.lastname: Tsujino
authors.forename: S
authors.initials: S
authors.lastname: Shanske
authors.forename: S
authors.initials: S
authors.lastname: DiMauro
mesh_terms: D001483:Base Sequence; D006008:Glycogen Storage Disease / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009132:Muscles / Q000201:enzymology*; D009154:Mutation; D010735:Phosphoglycerate Kinase / Q000172:deficiency* / Q000235:genetics*
chemical_list: D010735:Phosphoglycerate Kinase