DAVID M. DAWSON, M.D.; FREDERICK L. SPONG, M.D.; J. FREDERICK HARRINGTON, M.D., F.A.C.P.
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In a family with McArdle's syndrome, four siblings all had frequent muscle cramps caused by exercise and had episodes of myoglobinuria. The absence of phosphorylase activity was shown in biopsy specimens from three of the four. When biopsy material was used from one patient, there was no recognizable protein with the chromatographic properties of phosphorylase, thus confirming earlier reports that antibodies directed against human phosphorylase do not cross-react with muscle extracts from patients with McArdle's disease.
An extensive family history was gathered, and the inheritance seems to be that of an autosomal recessive gene. A susceptibility to brief painful cramps during exercise may be a useful test for detection of asymptomatic heterozygotes.
DAWSON DM, SPONG FL, HARRINGTON JF. McArdle's Disease: Lack of Muscle Phosphorylase. Ann Intern Med. 1968;69:229–235. doi: https://doi.org/10.7326/0003-4819-69-2-229
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Published: Ann Intern Med. 1968;69(2):229-235.
Hospital Medicine, Infectious Disease, Neurology.
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Print ISSN: 0003-4819 | Online ISSN: 1539-3704
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