[On progressive myopathy with muscle phosphorylase deficiency and giant mitochondria].
D000328:Adult; D001706:Biopsy; D002648:Child; D004796:Clinical Enzyme Tests; D003937:Diagnosis, Differential; D004794:Enzyme Repression; D005260:Female; D005964:Glucosyltransferases / Q000378:metabolism; D006003:Glycogen / Q000378:metabolism; D006008:Glycogen Storage Disease / Q000175:diagnosis; D006801:Humans; D007535:Isomerases / Q000378:metabolism*; D008854:Microscopy, Electron; D008931:Mitochondria, Muscle / Q000378:metabolism*; D009135:Muscular Diseases / Q000201:enzymology*; D009136:Muscular Dystrophies / Q000201:enzymology*; D010732:Phosphofructokinase-1 / Q000378:metabolism*
D006003:Glycogen; D005964:Glucosyltransferases; D010732:Phosphofructokinase-1; D007535:Isomerases
Uber eine progressive Myopathie mit Muskelphosphorylasemangel und Riesenmitochondrien.