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  • Title: Muscle pathology in Bassen-Kornzweig syndrome and vitamin E deficiency.
    Author: Lazaro RP, Dentinger MP, Rodichok LD, Barron KD, Satya-Murti S.
    Journal: Am J Clin Pathol; 1986 Sep; 86(3):378-87. PubMed ID: 2944375.
    Abstract:
    A constellation of histologic abnormalities was demonstrated in the quadriceps femoris muscle of a 29-year-old man with Bassen-Kornzweig syndrome. The abnormalities consisted of fibers containing dense lipid inclusions ceroid and lipofuscin, a spectrum of fiber size, architectural changes, and an increase in central nuclei. A dramatic shift of fiber type predominance, from type I to type II, was demonstrated in the myosin ATPase reactions one year after vitamin E therapy. Despite an apparent reduction in the number of fibers containing lipid and ceroid granules in the second biopsy, neuromyopathic changes worsened. The relationship of these findings to vitamin E therapy is discussed.
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