|Title||Immunocytochemical study of nebulin in Duchenne muscular dystrophy.|
|Publication Type||Journal Article|
|Year of Publication||1988|
|Authors||Bonilla, E, Miranda, AF, Prelle, A, Salviati, G, Betto, R, Zeviani, M, Schon, EA, DiMauro, S, Rowland, LP|
|Date Published||1988 Oct|
|Keywords||Child, Child, Preschool, Chromosome Deletion, Humans, Immunohistochemistry, Muscle Proteins, Muscular Dystrophies, X Chromosome|
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.
|Grant List||NS-11766 / NS / NINDS NIH HHS / United States|