muscular dystrophies

Digital slides

 UI:869 - Muscular dystrophy
 UI:1011 - Muscular dystrophy

Definition: 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)

@<@object width="425" height="350">@<@param name="movie" value="http://www.youtube.com/v/xwS3FtmvlRk">@<@/param>@<@param name="wmode" value="transparent">@<@/param>@<@embed src="http://www.youtube.com/v/xwS3FtmvlRk" type="application/x-shockwave-flash" wmode="transparent" width="425" height="350">@<@/embed>@<@/object>

 muscular dystrophy by Washington Deceit (2)

@<@object width="425" height="350">@<@param name="movie" value="http://www.youtube.com/v/eHROiZmKOpA">@<@/param>@<@param name="wmode" value="transparent">@<@/param>@<@embed src="http://www.youtube.com/v/eHROiZmKOpA" type="application/x-shockwave-flash" wmode="transparent" width="425" height="350">@<@/embed>@<@/object>

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