Abstract
Since the cloning of the gene responsible for Duchenne and Becker muscular dystrophy two decades ago, a number of other genes have been associated with various forms of muscular dystrophy. The protein products of these genes display a diversity of cellular localizations and functions, suggesting a complex pathophysiology within this class of disorders. Two recently identified functions of selected proteins include membrane repair and glycosylation, providing important insights into the disease process. A definitive cure remains elusive, but supportive therapies have become increasingly sophisticated, improving the quality of life and lengthening the life expectancy for many affected individuals.
Original language | English (US) |
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Title of host publication | Principles of Molecular Medicine |
Publisher | Humana Press |
Pages | 693-699 |
Number of pages | 7 |
ISBN (Print) | 9781588292025 |
DOIs | |
State | Published - 2006 |
Externally published | Yes |
Keywords
- Becker
- calpain
- congenital muscular dystrophy
- duchenne
- dysferlin
- dystroglycan
- dystrophin
- facioscapulohumeral muscular dystrophy
- limb-girdle
- merosin
- muscular dystrophy
- sarcoglycan