Journal article
Deficiency of dystrophin-associated proteins: A common mechanism leading to muscle cell necrosis in severe childhood muscular dystrophies
Neuromuscular Disorders, Vol.3(2), pp.109-118
1993
DOI: 10.1016/0960-8966(93)90002-2
PMID: 8358236
Abstract
Dystrophin is a large cytoskeletal protein encoded by the Duchenne muscular dystrophy (DMD) gene. Dystrophin is associated with a large oligomeric complex of sarcolemmal glycoproteins, including the novel laminin-binding glycoprotein called dystroglycan, which provides a linkage to the extracellular matrix. In DMD, the absence of dystrophin leads to a drastic reduction in all of the dystrophin-associated proteins. In severe childhood autosomal recessive muscular dystrophy with DMD-like phenotype (SCARMD), a specific deficiency of the 50 kDa dystrophin-associated glycoprotein is found. Thus, the disruption/dysfunction of the dystrophin-glycoprotein complex due to the deficiency of one or more of the dystrophin-associated proteins is presumed to cause the disruption of the linkage between the subsarcolemmal cytoskeleton and the extracellular matrix. This may render muscle cells susceptible to necrosis in two forms of severe childhood muscular dystrophy, DMD and SCARMD.
Details
- Title: Subtitle
- Deficiency of dystrophin-associated proteins: A common mechanism leading to muscle cell necrosis in severe childhood muscular dystrophies
- Creators
- Kiichiro Matsumura - Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City, IA 52242, U.S.AKevin P Campbell - Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City, IA 52242, U.S.A
- Resource Type
- Journal article
- Publication Details
- Neuromuscular Disorders, Vol.3(2), pp.109-118
- Publisher
- Elsevier B.V
- DOI
- 10.1016/0960-8966(93)90002-2
- PMID
- 8358236
- ISSN
- 0960-8966
- eISSN
- 1873-2364
- Language
- English
- Date published
- 1993
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Iowa Neuroscience Institute
- Record Identifier
- 9984068389902771
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