Duchenne muscular dystrophy (DMD), the most common and severe form of the muscular dystrophies, is an X-linked inborn error of metabolism with multiple tissue involvement. Although the major pathological changes are observed in skeletal muscle, abnormalities have also been detected in the heart1, nervous system2, red blood cells3, lymphocytes4 and cultured skin fibroblasts5–7. For many reasons, such as readily available tissue material, fewer secondary changes and the potential for prenatal diagnosis, cultured skin fibroblasts should be the tissue of choice to search for the primary defect. Several abnormalities have been reported in DMD fibroblasts, suggesting that the genetic abnormality is expressed in these cells5–7. To search for potentially mutant protein(s) we have compared the protein composition of normal and DMD fibroblasts by two-dimensional gel electrophoresis and have now found one protein spot consistently missing in DMD cells. The nature of this protein and its relation to the DMD gene are unknown.
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Rosenmann, E., Kreis, C., Thompson, R. et al. Analysis of fibroblast proteins from patients with Duchenne muscular dystrophy by two-dimensional gel electrophoresis. Nature 298, 563–565 (1982). https://doi.org/10.1038/298563a0
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