title: Phosphoglycerate kinase deficiency: an adult myopathic form with a novel mutation.
abstract: The authors report a 36-year-old man with exertional myoglobinuria and muscle cramp without hemolytic anemia or CNS symptoms. They found a deficiency of phosphoglycerate kinase (PGK) activity in muscle and erythrocytes and a 4-base pair deletion in exon 6 of the PGK gene. This mutation may cause a frameshift, yielding an abnormal stop codon in exon 6 by which a truncated PGK protein was produced. This phenotype is caused by a novel mutation of the PGK gene.
authors.affiliation: Second Department of Internal Medicine, Faculty of Medicine, Fukui Medical University, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Hamano
authors.forename: T
authors.initials: T
authors.lastname: Mutoh
authors.forename: H
authors.initials: H
authors.lastname: Sugie
authors.forename: H
authors.initials: H
authors.lastname: Koga
authors.forename: M
authors.initials: M
authors.lastname: Kuriyama
mesh_terms: D000328:Adult; D000743:Anemia, Hemolytic / Q000235:genetics; D002493:Central Nervous System Diseases / Q000235:genetics; D006801:Humans; D008297:Male; D009135:Muscular Diseases / Q000235:genetics* / Q000378:metabolism*; D010735:Phosphoglycerate Kinase / Q000172:deficiency* / Q000235:genetics*; D016133:Polymerase Chain Reaction
chemical_list: D010735:Phosphoglycerate Kinase