title: Nebulin seen in DMD males including one patient with a large DNA deletion encompassing the DMD gene.
abstract: The presence of nebulin in a muscle specimen from a patient with Duchenne muscular dystrophy (DMD) due to a large deletion precludes the possibility that this protein is the DMD gene product.
authors.affiliation: Institut de Pathologie Moléculaire, INSERM U15 and U129, CHU Cochin, Paris, France.
authors.forename: J J
authors.initials: JJ
authors.lastname: Pernelle
authors.forename: P
authors.initials: P
authors.lastname: Chafey
authors.forename: J
authors.initials: J
authors.lastname: Chelly
authors.forename: J P
authors.initials: JP
authors.lastname: Wahrmann
authors.forename: J C
authors.initials: JC
authors.lastname: Kaplan
authors.forename: F
authors.initials: F
authors.lastname: Tomé
authors.forename: M
authors.initials: M
authors.lastname: Fardeau
mesh_terms: D002872:Chromosome Deletion; D004591:Electrophoresis, Polyacrylamide Gel; D006801:Humans; D008297:Male; D009124:Muscle Proteins / Q000032:analysis / Q000235:genetics*; D009132:Muscles / Q000032:analysis; D009136:Muscular Dystrophies / Q000235:genetics*
chemical_list: D009124:Muscle Proteins; C035620:nebulin