Immunocytochemical study of nebulin in Duchenne muscular dystrophy.

TitleImmunocytochemical study of nebulin in Duchenne muscular dystrophy.
Publication TypeJournal Article
Year of Publication1988
AuthorsBonilla, E, Miranda, AF, Prelle, A, Salviati, G, Betto, R, Zeviani, M, Schon, EA, DiMauro, S, Rowland, LP
Date Published1988 Oct
KeywordsChild, 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.

Alternate JournalNeurology
Citation Key10.1212/wnl.38.10.1600
PubMed ID3419605
Grant ListNS-11766 / NS / NINDS NIH HHS / United States