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  • Title: Rimmed vacuoles with beta-amyloid and tau protein deposits in the muscle of children with hereditary myopathy.
    Author: Fidziańska A, Glinka Z.
    Journal: Acta Neuropathol; 2006 Aug; 112(2):185-93. PubMed ID: 16788822.
    Abstract:
    We investigated whether beta-amyloid and tau protein are involved in the formation of inclusion body myositis (IBM)-like inclusions found in children with rimmed vacuoles and congenitally affected muscles. We immunostained muscle biopsy specimens from four children and one 18-year-old boy with congenital myopathy containing rimmed vacuoles and IBM-like inclusions with antibodies against beta-amyloid, tau protein and ubiquitin. Focal accumulations of both beta-amyloid and phosphorylated tau coexisted with tubulofilamentous structures in all cases. Our studies demonstrate for the first time that the full morphological phenotype of IBM including beta-amyloid and tau protein deposits may also develop in children, and that congenital, probably genetic, muscle defects may lead to abnormal protein aggregation in IBM-like inclusions.
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