Duchenne muscular dystrophy (DMD) is a lethal sex-linked degenerative disorder of the muscle in man. Generalized cell membrane abnormalities seem to be involved in the pathogenesis of the disease; in particular, the impairment of lymphocyte capping capacities has been repeatedly confimed. To clarify whether capping impairment is a consequence of factors related to the activity of the disease or an expression of an intrinsic cellular defect, we have investigated the capping capacities of DMD EBV-transformed cell lines. The results indicate a significant impairment of capping capacity in cultured cell lines, providing evidence for an intrinsic cell deficiency in DMD.
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Baricordi, O.R., Sensi, A., Balboni, A. et al. Impairment of capping in lymphoblastoid cell lines of Duchenne patients indicates an intrinsic cellular defect. Hum Genet 83, 217–219 (1989). https://doi.org/10.1007/BF00285158
- Cell Membrane
- Internal Medicine
- Metabolic Disease
- Muscular Dystrophy
- Generalize Cell