Nebulin seen in DMD males including one patient with a large DNA deletion encompassing the DMD gene.
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.
Pernelle
J J
JJ
Institut de Pathologie Moléculaire, INSERM U15 and U129, CHU Cochin, Paris, France.
Chafey
P
P
Chelly
J
J
Wahrmann
J P
JP
Kaplan
J C
JC
Tomé
F
F
Fardeau
M
M
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*
D009124:Muscle Proteins; C035620:nebulin