Abstract
Summary
Studies were conducted on erythrocytes from myotonic goats, an animal model of heritable myotonia, and from patients with myotonic muscular dystrophy. When compared to those of normal goats, erythrocyte membranes from myotonic goats had (i) increased levels of calcium; (ii) an increased sialic acid content, and (iii) an altered protein composition with reduction of a 140,000 molecular weight protein. Erythrocytes from myotonic goats were also less susceptible to hemolysis than those from normal. Membranes of erythrocytes from patients with myotonic dystrophy had an increased content of sialic acid as compared to controls. The differences in calcium and sialic acid are consistent with previously reported abnormalities in the sarcoplasmic reticulum from the myotonic goat, and these findings support the concept of a generalized membrane defect in myotonia.
This work was supported by grants from the Muscular Dystrophy Association. The authors acknowledge the excellent technical assistance of Patty Soule and Rita Bennett.
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