Late-onset muscle phosphofructokinase deficiency.
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.
Danon
M J
MJ
Department of Neurology, University of Illinois College of Medicine, Chicago 60612.
Servidei
S
S
DiMauro
S
S
Vora
S
S
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*
D010732:Phosphofructokinase-1