title: McArdle's disease: biochemical and molecular genetic studies.
abstract: We have analyzed muscle biopsy specimens from 48 patients with biochemically proven phosphorylase deficiency (McArdle's disease) by sodium dodecylsulphate polyacrylamide gel electrophoresis (SDS-PAGE), immunoblotting, and immunotitration (enzyme-linked immunosorbent assay [ELISA]). Thirty-five of the 42 patients studied by SDS-PAGE and immunoblot, and 41 of the 48 patients studied by ELISA had no detectable enzyme protein. Six patients had markedly decreased phosphorylase protein by all three assays, and only 1 patient had a normal amount of protein. No apparent correlation existed between the presence or absence of enzyme protein and the clinical presentation or muscle glycogen concentration. Northern analysis was performed on muscle RNA in 4 patients: messenger RNA was normal in 2, abnormally short in 1, and absent in the fourth, indicating heterogeneity of the molecular lesion in McArdle's disease.
authors.affiliation: H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Columbia University College of Physicians and Surgeons, New York, NY.
authors.forename: S
authors.initials: S
authors.lastname: Servidei
authors.forename: S
authors.initials: S
authors.lastname: Shanske
authors.forename: M
authors.initials: M
authors.lastname: Zeviani
authors.forename: R
authors.initials: R
authors.lastname: Lebo
authors.forename: R
authors.initials: R
authors.lastname: Fletterick
authors.forename: S
authors.initials: S
authors.lastname: DiMauro
mesh_terms: D001706:Biopsy; D015152:Blotting, Northern; D015342:DNA Probes; D004591:Electrophoresis, Polyacrylamide Gel; D004797:Enzyme-Linked Immunosorbent Assay; D005260:Female; D006012:Glycogen Storage Disease Type V / Q000378:metabolism*; D006801:Humans; D015151:Immunoblotting; D008297:Male; D009132:Muscles / Q000378:metabolism*; D006005:Phosphorylases / Q000172:deficiency; D012333:RNA, Messenger / Q000032:analysis
chemical_list: D015342:DNA Probes; D012333:RNA, Messenger; D006005:Phosphorylases