Journal article
Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy
Nature (London), Vol.359(6393), pp.320-322
09/1992
DOI: 10.1038/359320a0
PMID: 1406935
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.
Details
- Title: Subtitle
- Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy
- Creators
- Kiichiro MatsumuraFernando M. S ToméHuguette CollinKemal AzibiMalika ChaouchJean-Claude KaplanMichel FardeauKevin P Campbell
- Resource Type
- Journal article
- Publication Details
- Nature (London), Vol.359(6393), pp.320-322
- DOI
- 10.1038/359320a0
- PMID
- 1406935
- ISSN
- 0028-0836
- eISSN
- 1476-4687
- Language
- English
- Date published
- 09/1992
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Iowa Neuroscience Institute
- Record Identifier
- 9984020860502771
Metrics
12 Record Views