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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
general
Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy
Nature, Volume 359, No. 6393, Year 1992
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Description
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. © 1992 Nature Publishing Group.
Authors & Co-Authors
Matsumura, Kiichiro
United States, Iowa City
University of Iowa Carver College of Medicine
Tomé, Fernando M.S.
France, Paris
Inserm
Collin, Huguette
France, Paris
Inserm
Azibi, Kemal
Algeria, Algiers
Hôpital de Bologhine
Chaouch, Malika
Algeria, Algiers
Etablissement Hospitalier Spécialisé de Ben Aknoun
Kaplan, Jean Claude
France, Paris
Institut Cochin
Fardeau, Michael
France, Paris
Inserm
Campbell, Kevin P.
United States, Iowa City
University of Iowa Carver College of Medicine
Statistics
Citations: 262
Authors: 8
Affiliations: 5
Identifiers
Doi:
10.1038/359320a0
ISSN:
00280836
Research Areas
Disability
Maternal And Child Health