Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface.
Dystrophin is the altered gene product in Duchenne muscular dystrophy (DMD). We used polyclonal antibodies against dystrophin to immunohistochemically localize the protein in human muscle. In normal individuals and in patients with myopathies other than DMD, dystrophin was localized to the sarcolemma of the fibers. The protein was absent or markedly deficient in DMD. The sarcolemmal localization of dystrophin is consistent with other evidence that there are structural and functional abnormalities of muscle surface membranes in DMD.
D002462:Cell Membrane / Q000378:metabolism; D016189:Dystrophin; D006801:Humans; D009124:Muscle Proteins / Q000172:deficiency*; D009132:Muscles / Q000378:metabolism*; D009136:Muscular Dystrophies / Q000378:metabolism*; D012508:Sarcolemma / Q000378:metabolism
D016189:Dystrophin; D009124:Muscle Proteins