Abstract
McArdle's disease (myophosphorylase deficiency) results in the inability to metabolise skeletal muscle glycogen to lactate. A patient with this condition developed angina and therefore offered a unique opportunity to explore the differential expression of the defective myophosphorylase gene in skeletal and cardiac muscle.
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- Bartram C., Edwards R. H., Clague J., Beynon R. J. McArdle's disease: a nonsense mutation in exon 1 of the muscle glycogen phosphorylase gene explains some but not all cases. Hum Mol Genet. 1993 Aug;2(8):1291–1293. doi: 10.1093/hmg/2.8.1291. [DOI] [PubMed] [Google Scholar]
- Lewis S. F., Haller R. G., Cook J. D., Blomqvist C. G. Metabolic control of cardiac output response to exercise in McArdle's disease. J Appl Physiol Respir Environ Exerc Physiol. 1984 Dec;57(6):1749–1753. doi: 10.1152/jappl.1984.57.6.1749. [DOI] [PubMed] [Google Scholar]
- Miranda A. F., Nette E. G., Hartlage P. L., DiMauro S. Phosphorylase isoenzymes in normal and myophosphorylase-deficient human heart. Neurology. 1979 Nov;29(11):1538–1541. doi: 10.1212/wnl.29.11.1538. [DOI] [PubMed] [Google Scholar]
- Porte D., Jr, Crawford D. W., Jennings D. B., Aber C., McIlroy M. B. Cardiovascular and metabolic responses to exercise in a patient with McArdle's syndrome. N Engl J Med. 1966 Aug 25;275(8):406–412. doi: 10.1056/NEJM196608252750802. [DOI] [PubMed] [Google Scholar]
- RATINOV G., BAKER W. P., SWAIMAN K. F. MCARDLE'S SYNDROME WITH PREVIOUSLY UNREPORTED ELECTROCARDIOGRAPHIC AND SERUM ENZYME ABNORMALITIES. Ann Intern Med. 1965 Feb;62:328–334. doi: 10.7326/0003-4819-62-2-328. [DOI] [PubMed] [Google Scholar]
- Riley M., Nicholls D. P., Nugent A. M., Steele I. C., Bell N., Davies P. M., Stanford C. F., Patterson V. H. Respiratory gas exchange and metabolic responses during exercise in McArdle's disease. J Appl Physiol (1985) 1993 Aug;75(2):745–754. doi: 10.1152/jappl.1993.75.2.745. [DOI] [PubMed] [Google Scholar]
- Wheeler S. D., Brooke M. H. Vascular insufficiency in McArdle's disease. Neurology. 1983 Feb;33(2):249–250. doi: 10.1212/wnl.33.2.249. [DOI] [PubMed] [Google Scholar]
- Will H., Krause E. G., Böhm M., Guski H., Wollenberger A. Kinetische Eigenschaften der Isoenzyme der Glykogen-phosphorylase b aus Herz- und Skelettmuskulatur des Menschen. Acta Biol Med Ger. 1974;33(2):149–160. [PubMed] [Google Scholar]