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  • Title: Menkes kinky hair disease with 'ragged red' fibers.
    Author: Morgello S, Peterson HD, Kahn LJ, Laufer H.
    Journal: Dev Med Child Neurol; 1988 Dec; 30(6):812-6. PubMed ID: 3234609.
    Abstract:
    A 30-month-old infant with Menkes kinky-hair disease died, with prominent vascular, cerebral and cerebellar degeneration. Increased numbers of mitochondria containing homogeneous dense bodies were seen on electron-microscopic examination of Purkinje cells. Subsarcolemmal aggregates of mitochondria ('ragged red' fibers) were present in skeletal muscle. These mitochondrial alterations support the hypothesis that copper deficiency results in mitochondrial encephalomyopathy.
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