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TY - JOUR AU - Matsumura, Kiichiro AU - Tomé, Fernando M. S. AU - Collin, Huguette AU - Azibi, Kemal AU - Chaouch, Malika AU - Kaplan, Jean-Claude AU - Fardeau, Michel AU - Campbell, Kevin P. PY - 1992 DA - 1992/09/01 TI - Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy JO - Nature SP - 320 EP - 322 VL - 359 IS - 6393 AB - X-LINKED recessive Duchenne muscular dystrophy (DMD) is caused by the absence of dystrophin, a membrane cytoskeletal protein1,2. Dystrophin is associated with a large oligomeric com-plex of sarcolemmal glycoproteins3–10. The dystrophin–glycoprotein complex has been proposed to span the sarcolemma to provide a link fyetween the subsarcolemmal cytoskeleton and the extracellular matrix component, laminin7,9. In DMD, the absence of dystrophin leads to a large reduction in all of the dystrophin-associated proteins4,9,10. We have investigated the possibility that a deficiency of a dystrophin-associated protein could be the cause of severe childhood autosomal recessive mus-cular dystrophy (SCARMD) with a DMD-like phenotype11–14. Here we report the specific deficiency of the 50K dystrophin-associated glycoprotein (Mr 50,000) in sarcolemma of SCARMD patients. Therefore, the loss of this glycoprotein is a common denominator of the pathological process leading to muscle cell necrosis in two forms of muscular dystrophy, DMD and SCARMD. SN - 1476-4687 UR - https://doi.org/10.1038/359320a0 DO - 10.1038/359320a0 ID - Matsumura1992 ER -