[Clinical features, diagnosis and treatment of McArdle's glycogenosis].
On the basis of the data obtained by examining five patients with MacArdle 's glycogenosis, the authors identified the features of the clinical course of the illness, specified its individual forms and determined criteria for its differential diagnosis in relation to various phenocopies. Histochemical investigation of biopsy specimens of muscular tissue revealed glycogen accumulation but failed to show any muscular phosphorylase activity. The principal therapeutic methods are outlined.
D005799:Genes, Dominant; D005808:Genes, Recessive; D006008:Glycogen Storage Disease / Q000175:diagnosis*; D006012:Glycogen Storage Disease Type V / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D006801:Humans; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000201:enzymology / Q000473:pathology; D009220:Myositis / Q000150:complications*; D005082:Physical Exertion; D013577:Syndrome
Klinicheskie osobennosti, diagnostika i lechenie glikogenoza Mak-Ardla.