title: Phosphoglycerate kinase deficiency: biochemical and molecular genetic studies in a new myopathic variant (PGK Alberta)
abstract: Biochemical analysis of muscle in a 37-year-old man with exercise intolerance, myalgia, recurrent myoglobinuria, and retinitis pigmentosa showed phosphoglycerate kinase (PGK) deficiency. Kinetic and physical characteristics of the mutant enzyme differed from those of two previously reported cases, suggesting a distinct mutation. Southern blot analysis showed similar bands in patient and control, but Northern blot analysis of muscle mRNA showed an abnormally large message. These data demonstrate that PGK deficiency is clinically, biochemically, and genetically heterogeneous.
authors.affiliation: H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia-Presbyterian Medical Center, New York, NY.
authors.forename: P
authors.initials: P
authors.lastname: Tonin
authors.forename: S
authors.initials: S
authors.lastname: Shanske
authors.forename: A F
authors.initials: AF
authors.lastname: Miranda
authors.forename: A K
authors.initials: AK
authors.lastname: Brownell
authors.forename: J P
authors.initials: JP
authors.lastname: Wyse
authors.forename: S
authors.initials: S
authors.lastname: Tsujino
authors.forename: S
authors.initials: S
authors.lastname: DiMauro
mesh_terms: D000328:Adult; D015152:Blotting, Northern; D015139:Blotting, Southern; D004247:DNA / Q000032:analysis; D006801:Humans; D008297:Male; D009132:Muscles / Q000737:chemistry; D009135:Muscular Diseases / Q000201:enzymology / Q000235:genetics*; D010735:Phosphoglycerate Kinase / Q000172:deficiency*; D012313:RNA / Q000032:analysis
chemical_list: D012313:RNA; D004247:DNA; D010735:Phosphoglycerate Kinase