Muscular dystrophies and the dystrophin-glycoprotein complex.
Efforts to understand the function of dystrophin, the protein product for the Duchenne muscular dystrophy gene, resulted in the purification of the dystrophin-glycoprotein complex. Over the past year several novel components of this complex have been identified. Recent studies have extended the number of muscular dystrophies associated with the oligomeric complex to six genetically distinct diseases, including three new forms of limb-girdle muscular dystrophy and one form of congenital muscular dystrophy.
Straub
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Howard Hughes Medical Institute, Department of Physiology and Biophysics, University of Iowa College of Medicine, Iowa City 52242, USA.
Campbell
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D000818:Animals; D002648:Child; D016189:Dystrophin / Q000235:genetics* / Q000502:physiology; D015870:Gene Expression / Q000502:physiology; D005838:Genotype; D006801:Humans; D008562:Membrane Glycoproteins / Q000235:genetics* / Q000502:physiology; D051379:Mice; D008822:Mice, Transgenic; D009136:Muscular Dystrophies / Q000145:classification / Q000235:genetics* / Q000503:physiopathology; D010641:Phenotype
D016189:Dystrophin; D008562:Membrane Glycoproteins