MCARDLES MYOPATHY . A REPORT OF A CASE WITH OBSERVATIONS ON MUSCLE ULTRASTRUCTURE

被引:11
作者
BROWNELL, B
HUGHES, JT
GOLDBY, FS
WOODS, HF
机构
[1] Department of Neuropathology, Radcliffe Infirmary, Oxford
[2] Department of Medicine, Radcliffe Infirmary, Oxford
关键词
D O I
10.1016/0022-510X(69)90092-6
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
A case of McArdle's syndrome in a 17-year-old male who suffered from muscle cramps and stiffness on moderate exertion is described. The diagnosis of McArdle's syndrome was suggested by the demonstration that the blood lactate failed to rise following exercise and was confirmed by specialised techniques applied to a muscle biopsy. Light microscopy showed peripheral vacuoles in the muscle fibres. Histochemical methods showed an excess of glycogen in the periphery of the muscle fibres and absence of the muscle enzyme phosphorylase. Biochemical analysis of the muscle showed a 3-fold rise in glycogen and the phosphorylase assay gave a result of less than 10% of normal. Electron microscopy showed a gross excess of glycogen situated in the sub-sarcolemmal regions, between the muscle myofibrils and between the individual myofilaments. In the last-named situation the glycogen accumulation was related to the I band and was not seen in the A band. The significance of the clinical, histochemical, biochemical and ultrastructural findings is discussed and methods of diagnosis are suggested. The literature is briefly reviewed. © 1969.
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页码:515 / &
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