Duchenne Muscular Dystrophy

Abstract

Duchenne muscular dystrophy (DMD) is an X‐linked recessive disorder that affects muscles and causes progressive weakness. Dystrophin, the product of the DMD gene, is one of several membrane proteins that form the dystrophin–glycoprotein complex, which helps to maintain the integrity of muscle cells; loss of these proteins leads to the wasting of muscle cells and to the pathology of DMD.

Keywords: dystrophin; muscular dystrophies; dystroglycan; sarcoglycan; muscle pathology

Figure 1.

Dystrophin–glycoprotein complex (DGC). DGC is composed of dystrophin, dystroglycan (α‐dystroglycan (156 kDa), β‐dystroglycan (43 kDa)), sarcoglycans (a 50‐kDa α‐sarcoglycan, a 43‐kDa β‐sarcoglycan, a 35‐kDa γ‐sarcoglycan, a 35‐kDa δ‐sarcoglycan) and syntrophins (a 54‐kDa α‐syntrophin, a 58‐kDa β‐syntrophin). α‐Dystroglycan binds the extracellular matrix proteins, laminin and agrin, and may interact with sarcoglycans. The cytoplasmic tail of β‐dystroglycan binds to the C‐terminus of dystrophin and anchors the protein to the DGC. F‐actin (actin filaments) is attached to dystrophin at multiple sites: at the N‐terminus, in the central rod domain, and at the C‐terminus of the protein.

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Further Reading

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Worton R (1995) Muscular dystrophies: diseases of the dystrophin–glycoprotein complex. Science 270: 755–756.

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How to Cite close
Michalak, Marek, and Opas, Michal(Apr 2001) Duchenne Muscular Dystrophy. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1038/npg.els.0002008]