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H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases (Drs. Bonilla, Miranda, Prelle, Zeviani, Schon, DiMauro, and Rowland), Columbia-Presbyterian Medical Center, New York, NY; and the CNR Unit for Muscle Biology and Physiopathology (Drs. Salviati and Betto), University of Padova, Padova, Italy.
We used antibodies to nebulin in immunocytochemical studies. In normal muscle, nebulin was localized at the I band. The protein was also present in most fibers from all 15 Duchenne muscular dystrophy (DMD) patients studied, including patients who seemed to lack nebulin in electrophoretic gels and patients who demonstrated deletions of DNA in the region of Xp21. These results conform to other evidence that nebulin is not the primarily affected gene product in DMD; it may be affected secondarily.
Address correspondence and reprint requests to Dr. Bonilla, Room 5-431, College of Physicians and Surgeons, 630 West 168th Street, New York, NY 10032.
Supported by Center Grants NS-11766 from the National Institute of Neurological and Communicative Disorders and Stroke and from the Muscular Dystrophy Association. Dr. Prelle was supported by a fellowship from the Centra "Dino Ferarri," University of Milan, Italy.
Received November 17, 1987. Accepted for publication in final form March 24, 1988.
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J.A. Witkowski Review Article: Dystrophin-Related Muscular Dystrophies J Child Neurol, October 1, 1989; 4(4): 251 - 271. [Abstract] [PDF] |
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