title: A novel missense mutation (837T-->C) in the phosphoglycerate kinase gene of a patient with a myopathic form of phosphoglycerate kinase deficiency.
authors.affiliation: Department of Pediatric Neurology, Hamamatsu City Medical Center for Developmental Medicine, Shizuoka, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Sugie
authors.forename: Y
authors.initials: Y
authors.lastname: Sugie
authors.forename: M
authors.initials: M
authors.lastname: Ito
authors.forename: T
authors.initials: T
authors.lastname: Fukuda
mesh_terms: D002493:Central Nervous System Diseases / Q000235:genetics; D002648:Child; D006801:Humans; D007564:Japan; D008297:Male; D010523:Peripheral Nervous System Diseases / Q000235:genetics*; D010735:Phosphoglycerate Kinase / Q000172:deficiency / Q000235:genetics*; D017354:Point Mutation; D017421:Sequence Analysis
chemical_list: D010735:Phosphoglycerate Kinase