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  • Title: Abetalipoproteinemia (Bassen-Kornzweig syndrome). Muscle involvement.
    Author: Kott E, Delpre G, Kadish U, Dziatelovsky M, Sandbank U.
    Journal: Acta Neuropathol; 1977 Mar 31; 37(3):255-8. PubMed ID: 855647.
    Abstract:
    A 26-year old male suffered from Abeta-lipoproteinemia (Bassen-Kornzweig disease). In addition to C.N.S. lesions, he had myopathy. A muscle biopsy revealed accumulation of ceroid pigment in the striated muscle. A few muscle fibers showed severe degeneration of the myofibrils. Fibroblasts and macrophages in the interstitial tissue contained abundant ceroid. The relation between ceroid accumulation, abetalipoproteinemia and vitamin E-deficiency is discussed.
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