title: Late-onset muscle phosphofructokinase deficiency.
abstract: A 75-year-old man had a 10-year history of slowly progressive limb weakness without cramps or myoglobinuria. Clinical, morphologic, and biochemical studies showed muscle phosphofructokinase (PFK) deficiency. Erythrocyte PFK activity in his asymptomatic daughter was 63% of normal, compatible with a carrier state. The chronic myopathic variant of muscle PFK deficiency appears to be transmitted as an autosomal recessive trait and may be due to a distinct genetic defect.
authors.affiliation: Department of Neurology, University of Illinois College of Medicine, Chicago 60612.
authors.forename: M J
authors.initials: MJ
authors.lastname: Danon
authors.forename: S
authors.initials: S
authors.lastname: Servidei
authors.forename: S
authors.initials: S
authors.lastname: DiMauro
authors.forename: S
authors.initials: S
authors.lastname: Vora
mesh_terms: D000368:Aged; D006008:Glycogen Storage Disease / Q000473:pathology*; D006014:Glycogen Storage Disease Type VII / Q000201:enzymology / Q000473:pathology*; D006801:Humans; D008297:Male; D009132:Muscles / Q000201:enzymology / Q000473:pathology*; D010732:Phosphofructokinase-1 / Q000172:deficiency*
chemical_list: D010732:Phosphofructokinase-1