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“Quadriceps myopathy”: a clinical variant form of becker muscular dystrophy (1990)

Wada, Y. ; Itoh, Y. ; Furukawa, T. ; [et al.]

Springer

Journal of neurology 237 (1990), S. 310-312

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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

URL: http://dx.doi.org/10.1007/BF00314749

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