Published Online: 27 JAN 2006
Copyright © 2001 John Wiley & Sons, Ltd. All rights reserved.
How to Cite
Bushby, K. 2006. Muscular Dystrophies. eLS. .
- Published Online: 27 JAN 2006
The identification of the many genes involved in producing a muscular dystrophy phenotype has highlighted the complex molecular pathology of this group of diseases. Genetic and phenotypic heterogeneity is the norm, with mutations now described in proteins involved in many areas of key function in skeletal muscle, including proteins of the muscle fiber membrane, extracellular matrix, nuclear envelope and sarcomere.
- plasma membrane;
- extracellular matrix;
- nuclear envelope