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  • 1
    Electronic Resource
    Electronic Resource
    Springer
    Journal of neurology 237 (1990), S. 310-312 
    ISSN: 1432-1459
    Keywords: Quadriceps myopathy ; Becker muscular dystrophy ; Dystrophin
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A 26-year-old male with “quadriceps myopathy” is presented. He had a family history and only the bilateral quadriceps were wasted, without symptomatic weakness. The specimen of the muscle biopsy showed typical myopathic features without inflammatory reactions. The patchy defect of muscular dystrophin was proved by immunohistochemical study. Dystrophin analysis revealed abnormal 380 kDa dystrophin. Gene deletion was proved at exon 45–48 of Xp21 without frameshift. This case was considered to be a clinical variant form of Becker muscular dystrophy.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1459
    Keywords: Amyloid polyneuropathy ; Amyloid proteins ; Abnormal prealbumin
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Two “sporadic” cases of amyloid polyneuropathy are reported. There was no family history or plasma cell dyscrasia. Both showed sensorimotor and autonomic polyneuropathy with onset in the seventh decade. Amyloid deposits in both cases reacted with anti-human prealbumin sera but not with antisera to human AA and anti-human immunoglobulin light-chain amyloids, including Aκ and Aλ. One patient had the abnormal serum prealbumin and abnormal DNA sequence found in type I familial amyloid polyneuropathy (FAP) (Japanese type). Investigations in “sporadic” amyloid polyneuropathy should include immunohistochemistry, using antisera to the different amyloid proteins, and the radioimmunoassay and recombinant DNA techniques for diagnosis of FAP.
    Type of Medium: Electronic Resource
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