Cell
Volume 54, Issue 4, 12 August 1988, Pages 447-452
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Article
Duchenne muscular dystrophy: Deficiency of dystrophin at the muscle cell surface

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Abstract

Dystrophin is the altered gene product in Duchenne muscular dystrophy (DMD). We used polyclonal antibodies against dystrophin to immunohistochemically localize the protein in human muscle. In normal individuals and in patients with myopathies other than DMD, dystrophin was localized to the sarcolemma of the fibers. The protein was absent or markedly deficient in DMD. The sarcolemmal localization of dystrophin is consistent with other evidence that there are structural and functional abnormalities of muscle surface membranes in DMD.

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    Present address: CNR Unit for Muscle Biology and Physiopathology, University of Padova, Padova, Italy.

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