In vitro erythrocyte water transport in Duchenne muscular dystrophy: an NMR investigation.
Previous nuclear magnetic resonance (NMR) studies of erythrocyte water transport in Duchenne muscular dystrophy (DMD) have been extended to include mothers, as well as a larger patient group. The results, reported as values of the mean residence time, tau a, of intracellular water, reveals an experimentally significant decrease in permeability to water in most of the patients and one-half of the mothers examined. It was found that all mothers of patients with normal tau a values also show normal results. This finding suggests that Duchenne muscular dystrophy may exhibit genetic heterogeneity.
D001692:Biological Transport; D001826:Body Fluids / Q000378:metabolism*; D002463:Cell Membrane Permeability; D004910:Erythrocyte Membrane / Q000378:metabolism*; D004912:Erythrocytes / Q000378:metabolism*; D005260:Female; D006801:Humans; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D009136:Muscular Dystrophies / Q000378:metabolism*