Review
Nature Reviews Molecular Cell Biology 7, 762-773 (October 2006) | doi:10.1038/nrm2024
Article series: Mechanisms of disease
Molecular mechanisms of muscular dystrophies: old and new players
Kay E Davies1 & Kristen J Nowak2 About the authors
Abstract
The study of the muscle cell in the muscular dystrophies (MDs) has shown that 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. These findings have not only revealed important insights for cell biologists, but have also provided unexpected and exciting new approaches for therapy.
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Author affiliations
-
Department of Physiology, Anatomy and Genetics, MRC Functional Genetics Unit, South Parks Road, Oxford OX1 3QX, UK.
Email: kay.davies@human-anatomy.oxford.ac.uk -
Centre for Medical Research, University of Western Australia, Western Australian Institute for Medical Research, B Block, QEII Medical Centre, Nedlands 6009, Western Australia.
Email: knowak@cyllene.uwa.edu.au
Published online 13 September 2006
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