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  • Title: Quantitative and qualitative alterations of dystrophin are expressed in muscle cell cultures of Xp21 muscular dystrophy patients (Duchenne and Becker type).
    Author: Mongini T, Doriguzzi C, Palmucci L, Chiadò-Piat L.
    Journal: Eur J Clin Invest; 1996 Apr; 26(4):322-4. PubMed ID: 8732491.
    Abstract:
    The authors studied skeletal muscle cell cultures from four control subjects, two patients with Duchenne muscular dystrophy, two Duchenne carriers and three patients with Becker muscular dystrophy with different phenotypes. Western blotting was performed on well-differentiated myotubes and compared with the results obtained in muscle tissue. In all cultures the band of dystrophin closely corresponded to the one observed in muscle tissue: both quantitative and qualitative defects were observed. This confirms the early expression of the Xp21 gene defect in uninnervated muscle cultures and supports the usefulness of muscle cultures both in diagnostic procedure and as a model to study the disease.
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