Article
Dystrophinopathies.
Seminars in pediatric neurology - 1 Jun 1996
Reitter B, Goebel H H
Abstract excerpt
The discovery of the subsarcolemmal muscle fiber protein dystrophin has, to a certain extent, replaced former nosological terms of Duchenne (DMD) and Becker (BMD) muscular dystrophies by the term dystrophinopathies. The immunohistochemical and Western blot analysis of dystrophin has not only enlarged the clinical spectrum of dystrophinopathies, but has also made carrier detection of DMD more reliable,...
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