The role of the dystrophin-glycoprotein complex in the molecular pathogenesis of muscular dystrophies
- PMID: 8186706
- DOI: 10.1016/0960-8966(93)90110-6
The role of the dystrophin-glycoprotein complex in the molecular pathogenesis of muscular dystrophies
Abstract
The dystrophin-glycoprotein complex is considered to be a major trans-sarcolemmal structure which provides a linkage between the subsarcolemmal actin cytoskeleton and the extracellular matrix component laminin. Recently, deficiency of the dystrophin-associated proteins has been shown to play an important role in the molecular pathogenesis of several forms of muscular dystrophy. These include Duchenne muscular dystrophy (DMD), symptomatic DMD carriers, Becker muscular dystrophy and severe childhood autosomal recessive muscular dystrophy with DMD-like phenotype prevalent in North Africa. In Fukuyama-type congenital muscular dystrophy (FCMD), the finding of abnormal expression of the dystrophin-associated proteins may provide a clue to its molecular pathogenesis. These recent findings indicate that the linkage between the subsarcolemmal cytoskeleton and extracellular matrix via the dystrophin-glycoprotein complex is critical for maintaining the integrity of muscle cell function.
Similar articles
-
Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy.Nature. 1992 Sep 24;359(6393):320-2. doi: 10.1038/359320a0. Nature. 1992. PMID: 1406935
-
Dystrophin-glycoprotein complex: its role in the molecular pathogenesis of muscular dystrophies.Muscle Nerve. 1994 Jan;17(1):2-15. doi: 10.1002/mus.880170103. Muscle Nerve. 1994. PMID: 8264699 Review.
-
The childhood muscular dystrophies: diseases sharing a common pathogenesis of membrane instability.J Child Neurol. 1995 Mar;10(2):150-9. doi: 10.1177/088307389501000219. J Child Neurol. 1995. PMID: 7782608 Review.
-
Abnormal expression of dystrophin-associated proteins in Fukuyama-type congenital muscular dystrophy.Lancet. 1993 Feb 27;341(8844):521-2. doi: 10.1016/0140-6736(93)90279-p. Lancet. 1993. PMID: 8094772
-
Functions of dystrophin and dystrophin associated proteins.Curr Opin Neurol. 1997 Oct;10(5):436-42. doi: 10.1097/00019052-199710000-00014. Curr Opin Neurol. 1997. PMID: 9330892 Review.
Cited by
-
mdx(⁵cv) mice manifest more severe muscle dysfunction and diaphragm force deficits than do mdx Mice.Am J Pathol. 2011 Nov;179(5):2464-74. doi: 10.1016/j.ajpath.2011.07.009. Epub 2011 Sep 3. Am J Pathol. 2011. PMID: 21893021 Free PMC article.
-
2015 William Allan Award.Am J Hum Genet. 2016 Mar 3;98(3):419-426. doi: 10.1016/j.ajhg.2016.01.007. Am J Hum Genet. 2016. PMID: 26942278 Free PMC article. No abstract available.
-
Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy.Hum Genet. 2016 Jul;135(7):685-98. doi: 10.1007/s00439-016-1666-6. Epub 2016 Apr 21. Hum Genet. 2016. PMID: 27098336 Review.
-
Linker Protein Repair of LAMA2 Dystrophic Neuromuscular Basement Membranes.Front Mol Neurosci. 2019 Dec 13;12:305. doi: 10.3389/fnmol.2019.00305. eCollection 2019. Front Mol Neurosci. 2019. PMID: 31920536 Free PMC article. Review.
-
β1D chain increases α7β1 integrin and laminin and protects against sarcolemmal damage in mdx mice.Hum Mol Genet. 2012 Apr 1;21(7):1592-603. doi: 10.1093/hmg/ddr596. Epub 2011 Dec 16. Hum Mol Genet. 2012. PMID: 22180459 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical
Miscellaneous
