Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy (original) (raw)
- Letter
- Published: 24 September 1992
- Fernando M. S. Tomé2,
- Huguette Collin2,
- Kemal Azibi3,
- Malika Chaouch4,
- Jean-Claude Kaplan5,
- Michel Fardeau2 &
- …
- Kevin P. Campbell1
Nature volume 359, pages 320–322 (1992)Cite this article
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Abstract
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.
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Authors and Affiliations
- Howard Hughes Medical Institute and Department of Physiology and Biophysics, University of Iowa College of Medicine, Iowa City, Iowa, 52242, USA
Kiichiro Matsumura & Kevin P. Campbell - INSERM 153, 17 rue du Fer-a-Moulin, Paris, 75005, France
Fernando M. S. Tomé, Huguette Collin & Michel Fardeau - Laboratoire de Biologie, Hopital de Bologhine, Algiers, Algeria
Kemal Azibi - Service de Neurologic, Hopital de Ben-Aknoun, Algiers, Algeria
Malika Chaouch - INSERM 129, Institut Cochin de Genetique Moleculaire, 24 rue du Faubourg St Jacques, Paris, 75014, France
Jean-Claude Kaplan
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Matsumura, K., Tomé, F., Collin, H. et al. Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy.Nature 359, 320–322 (1992). https://doi.org/10.1038/359320a0
- Received: 06 July 1992
- Accepted: 10 August 1992
- Issue Date: 24 September 1992
- DOI: https://doi.org/10.1038/359320a0