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.

journal_name

Ann Neurol

journal_title

Annals of neurology

authors

Servidei S,Shanske S,Zeviani M,Lebo R,Fletterick R,DiMauro S

doi

10.1002/ana.410240612

subject

Has Abstract

pub_date

1988-12-01 00:00:00

pages

774-81

issue

6

eissn

0364-5134

issn

1531-8249

journal_volume

24

pub_type

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