Cerebrotendinous xanthomatosis. Controversies about nerve and muscle: observations in ten patients.

Verrips, A; van Engelen, B G; ter Laak, H; Gabreëls-Festen, A; Janssen, A; Zwarts, M; Wevers, R A; Gabreëls, F J

Verrips, A; van Engelen, B G; ter Laak, H; Gabreëls-Festen, A; Janssen, A; Zwarts, M; Wevers, R A; Gabreëls, F J.

Affiliation

Verrips A; Departments of Paediatric Neurology, University Hospital Nijmegen, PO Box 9101, 6500 HB, The, Nijmegen, Netherlands. a.verrips@ckskg.azn.nl

Neuromuscul Disord ; 10(6): 407-14, 2000 Aug.

Article in En | MEDLINE | ID: mdl-10899446

Subject(s)

Muscle, Skeletal/pathology; Muscle, Skeletal/physiopathology; Nerve Fibers/pathology; Xanthomatosis, Cerebrotendinous/pathology; Xanthomatosis, Cerebrotendinous/physiopathology; Adult; Axons/pathology; Axons/ultrastructure; Biopsy; Cholestanetriol 26-Monooxygenase; Cytochrome P-450 Enzyme System/genetics; Electromyography; Electron Transport; Female; Humans; Male; Middle Aged; Mitochondria, Muscle/enzymology; Mitochondria, Muscle/ultrastructure; Muscle, Skeletal/ultrastructure; Nerve Fibers/ultrastructure; Steroid Hydroxylases/genetics; Sural Nerve/pathology; Sural Nerve/ultrastructure; Xanthomatosis, Cerebrotendinous/genetics

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Collection: 01-internacional Database: MEDLINE Main subject: Muscle, Skeletal / Xanthomatosis, Cerebrotendinous / Nerve Fibers Limits: Adult / Female / Humans / Male / Middle aged Language: En Journal: Neuromuscul Disord Journal subject: NEUROLOGIA Year: 2000 Document type: Article Affiliation country: Netherlands

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