Quadriceps myopathy: forme fruste of Becker muscular dystrophy |
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Authors: | N Sunohara K Arahata E P Hoffman H Yamada J Nishimiya E Arikawa M Kaido I Nonaka H Sugita |
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Institution: | Department of Neurology, National Center Hospital, Tokyo, Japan. |
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Abstract: | We examined dystrophin, the protein product of the Duchenne muscular dystrophy gene, in muscle biopsy specimens from 4 male patients with quadriceps myopathy, all of whom showed a mild and slowly progressive myopathy confined to the quadriceps muscles. All 4 patients had clear abnormalities of dystrophin, and were diagnosed as having Becker muscular dystrophy by both immunofluorescence and immunoblot examinations; that is, dystrophin of an abnormal molecular mass was visualized in muscle cryosections as "patchy" or discontinuous immunostaining at the surface membrane of the muscle fibers. One patient had a brother who showed widespread myopathic changes consistent with typical Becker muscular dystrophy. We conclude that the syndrome called quadriceps myopathy includes a group of forme fruste Becker muscular dystrophy. |
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