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Science 12 June 1981:
Vol. 212. no. 4500, pp. 1277 - 1279
DOI: 10.1126/science.6262916
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Articles

Science, Vol 212, Issue 4500, 1277-1279
Copyright © 1981 by American Association for the Advancement of Science

articles

Human muscle phosphoglycerate mutase deficiency: newly discovered metabolic myopathy

S DiMauro, AF Miranda, S Khan, K Gitlin, and R Friedman

Muscle phosphoglycerate mutase activity was decreased (5.7 percent of the lowest control value) in a 52-year-old man with intolerance for strenuous exercise and recurrent pigmenturia since adolescence. All of the other enzymes of glycolysis had normal activities, and glycogen concentration was normal. Electrophoretic, heat lability, and mercury inhibition studies showed that the small residual activity in the patient's muscle was represented by the brain (BB) isoenzyme of phosphoglycerate mutase, suggesting a genetic defect of the M subunit which predominates in normal muscle. The prevalence of the BB isoenzyme in other tissues, including muscle culture, may explain why symptoms were confined to muscle.


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
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Arch Neurol 66, 394-398
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Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency?.
M. C. Orngreen, H. J. Schelhaas, T. D. Jeppesen, H. O. Akman, R. A. Wevers, S. T. Andersen, H. J. ter Laak, O. P. van Diggelen, S. DiMauro, and J. Vissing (2008)
Neurology 70, 1876-1882
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Effect of Fuels on Exercise Capacity in Muscle Phosphoglycerate Mutase Deficiency.
J. Vissing, B. Quistorff, and R. G. Haller (2005)
Arch Neurol 62, 1440-1443
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Fatal Malignant Hyperthermia-Like Syndrome With Rhabdomyolysis Complicating the Presentation of Diabetes Mellitus in Adolescent Males.
A. S. Hollander, R. C. Olney, P. R. Blackett, and B. A. Marshall (2003)
Pediatrics 111, 1447-1452
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Lactate transporter defect: a new disease of muscle.
W. Fishbein (1986)
Science 234, 1254-1256
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Clinical Varieties of Neuromuscular Disease in Debrancher Deficiency.
F. Cornelio, N. Bresolin, P. A. Singer, S. DiMauro, and L. P. Rowland (1984)
Arch Neurol 41, 1027-1032
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