muscular dystrophies
Muscular dystrophies covers a group of genetically determined disorders that cause progressive weakness and wasting of the skeletal muscles.
In muscular dystrophies (MDs), mutant proteins result in perturbations of many cellular components. MDs have been associated with mutations in structural proteins, signalling molecules and enzymes as well as mutations that result in aberrant processing of mRNA or alterations in post-translational modifications of proteins.
Classification
dystrophinopathies
sarcoglycanopathies
Ullrich congenital muscular dystrophy
limb-girdle muscular dystrophies
Etiology
mutations of DGC components
- mutations of dystrophin
- mutations of sarcoglycan
- mutations of laminin-2
mutations of DGC-associated molecules
- mutations of caveolin-3
Videos
muscular dystrophy by Washington Deceit (1)
muscular dystrophy by Washington Deceit (2)
References
McNally EM, Pytel P. Muscle diseases: the muscular dystrophies. Annu Rev Pathol. 2007;2:87-109. PMID: 18039094
Davies KE, Nowak KJ. Molecular mechanisms of muscular dystrophies: old and new players. Nat Rev Mol Cell Biol. 2006 Oct;7(10):762-73. PMID: 16971897
Bansal D, Campbell KP. Dysferlin and the plasma membrane repair in muscular dystrophy. Trends Cell Biol. 2004 Apr;14(4):206-13. PMID: 15066638
Galbiati F, Razani B, Lisanti MP. Caveolae and caveolin-3 in muscular dystrophy. Trends Mol Med. 2001 Oct;7(10):435-41. PMID: 11597517