[Clinicopathological characteristics and molecular genetics of adhalin deficiency (severe childhood autosomal recessive muscular dystrophy/SCARMD)].
Dystrophin is a cytoskeletal protein complexed with a number of cell membrane glycoproteins to from the dystrophin-glycoprotein complex (DGC) in striated muscle. The dystroglycan complex, one of the functional subcomplexes composing the DGC, is a novel type of laminin receptor playing active roles in signal transduction. Another functional subcomplex composing the DGC is the sarcoglycan complex, comprised of alpha-(also called adhalin), beta-, gamma- and delta-sarcoglycans. Recent revelations indicate that genetic defects of either alpha-, beta-, gamma- or delta-sarcoglycan lead to a loss of the entire sarcoglycan complex and result in the phenotype of severe limb-girdle muscular dystrophy (collectively called sarcoglycanopathy). In this review, I discuss the molecular pathogenesis and clinical features sarcoglycanopathy.
Matsumura
K
K
Department of Neurology and Neuroscience, Teikyo University School of Medicine.
D000818:Animals; D002648:Child; D002675:Child, Preschool; D003598:Cytoskeletal Proteins / Q000172:deficiency* / Q000235:genetics; D005808:Genes, Recessive; D006801:Humans; D008562:Membrane Glycoproteins / Q000172:deficiency* / Q000235:genetics; D009136:Muscular Dystrophies / Q000209:etiology* / Q000235:genetics; D009154:Mutation; D010641:Phenotype; D011485:Protein Binding; D049031:Sarcoglycans; D015398:Signal Transduction
D003598:Cytoskeletal Proteins; D008562:Membrane Glycoproteins; D049031:Sarcoglycans