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Muscular Dystrophies

  1. Kate Bushby

Published Online: 27 JAN 2006

DOI: 10.1038/npg.els.0006030

eLS

eLS

How to Cite

Bushby, K. 2006. Muscular Dystrophies. eLS. .

Author Information

  1. International Centre for Life, Newcastle upon Tyne, UK

Publication History

  1. Published Online: 27 JAN 2006

Abstract

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.

Keywords:

  • dystrophin;
  • plasma membrane;
  • extracellular matrix;
  • sarcomere;
  • nuclear envelope