ProteinLounge
Citations
About Us
Contact Us
Login to Protein Lounge!

Muscular Dystrophies and Dystrophin-Glycoprotein Complex

This image is a scaled-down version of the actual pathway image. It does not contain any links to the protein information pages.
 

Description

Muscular dystrophy is a genetically heterogeneous group of disorders characterized by progressive weakness and degeneration of the skeletal or voluntary muscles which control movement. This group of diseases has three features in common: they are hereditary, they are progressive and each causes a characteristic, selective pattern of weakness. Some forms of MD first appear in infancy or childhood, but others may not appear until middle age or later (Ref.1). Although the actual cause of this disorder is unknown, it is known that a gene defect is responsible for the onset. Even though females are known to carry the defective gene they remain unaffected. The recessive gene that is responsible is carried on the X-chromosome and while females who are carriers [...]

References:

1.Advances in Duchenne muscular dystrophy gene therapy.
van Deutekom JC, van Ommen GJ.
Nat Rev Genet. 2003 Oct; 4(10):774-83. Review.
2.New treatment alternatives for Duchenne and Becker muscular dystrophy.
Restrepo S.
Neurology. 2004 Mar 23; 62(6):E10.
You can get all the details on this pathway through subscription