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  • Title: Localization and characterization of dystrophin in muscle biopsy specimens from Duchenne muscular dystrophy and various neuromuscular disorders.
    Author: Uchino M, Araki S, Miike T, Teramoto H, Nakamura T, Yasutake T.
    Journal: Muscle Nerve; 1989 Dec; 12(12):1009-16. PubMed ID: 2695839.
    Abstract:
    Dystrophin, surmised to be the causative protein of Duchenne muscular dystrophy (DMD), was studied for its intracellular localization and characterization by immunostaining and Western blotting using antidystrophin antibodies. In normal controls and in patients with various neuromuscular diseases other than DMD and Becker's muscular dystrophy (BMD), dystrophin was detected homogeneously on the entire surface membrane of the muscle fibers, whereas it was absent in DMD patients and partially observed in BMD cases. The density of dystrophin was low in BMD and female DMD patients. In mouse skeletal and cardiac muscles, too, dystrophin localized in the muscle surface membrane, and its presence in the brain was also suggested. However, dystrophin was not detected in mdx mice. These data suggest that myofiber necrosis in DMD patients and mdx mice is likely to be the result of plasma membrane instability.
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