Muscle phosphofructokinase deficiency.
Massa
R
R
Sancesario
G
G
Bernardi
G
G
D017668:Age of Onset; D001706:Biopsy; D005190:Family; D005260:Female; D006801:Humans; D007585:Jews / Q000235:genetics; D008931:Mitochondria, Muscle / Q000473:pathology; D018482:Muscle, Skeletal / Q000201:enzymology*; D009135:Muscular Diseases / Q000201:enzymology* / Q000235:genetics* / Q000473:pathology; D010732:Phosphofructokinase-1 / Q000172:deficiency* / Q000235:genetics; D017354:Point Mutation
D010732:Phosphofructokinase-1