Abstract
Summary: Erythrocytes of patients with Duchenne muscular dystrophy have been found to have elevated levels of spermine, a polyamine with a membrane-stabilizing action. Although a specific, increased spermine concentration is an additional biochemical abnormality documenting the involvement of erythrocyte membrane in Duchenne muscular dystrophy.
Normal level of spermine were found in female carriers.
Speculation: The generalized cell membrane involvement in Duchenne muscular dystrophy and in other myopathies may be inferred by an increased cellular concentration of substances, such as the polyamine spermine, which are involved in the maintenance of cellular stability.
Unfortunately, this characteristic of cells from myopathic patients is not utilizable for diagnostic purpose because it is not specific for a single myopathy, and it is not shared by the cells of healthy carriers.
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Mollica, F., Volti, S., Rapisarda, A. et al. Increased Erythrocytic Spermine in Duchenne Muscular Dystrophy. Pediatr Res 14, 1196–1198 (1980). https://doi.org/10.1203/00006450-198011000-00009
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DOI: https://doi.org/10.1203/00006450-198011000-00009