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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. |
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