[Glycogen myopathy with a probable deficiency of phosphohexoisomerase. Preliminary report].
D001763:Blepharoptosis / Q000175:diagnosis; D005260:Female; D005956:Glucose-6-Phosphate Isomerase / Q000378:metabolism*; D006008:Glycogen Storage Disease / Q000201:enzymology*; D006801:Humans; D008875:Middle Aged; D009132:Muscles / Q000201:enzymology; D009135:Muscular Diseases / Q000378:metabolism*; D010732:Phosphofructokinase-1 / Q000378:metabolism; D013064:Speech Disorders / Q000175:diagnosis
D010732:Phosphofructokinase-1; D005956:Glucose-6-Phosphate Isomerase
Miopatia glikogenowa z prawdopodobnym niedoborem fosfoheksoizomerazy. Doniesienie wstepne.