EDMD (Emery–Dreifuss muscular dystrophy) is caused by mutations in either the gene encoding for lamin A/C (LMNA) located at 1q21.2–q21.3 or emerin (EMD) located at Xq28. Autosomal dominant EDMD caused by LMNA mutations is more common than the X-linked form and often more severe, with an earlier onset. At the histological and histochemical levels, both X-linked and autosomal dominant EDMD appear similar. However, individuals with the same genetic disorder often show remarkable differences in clinical severity, a finding generally attributed to the genetic background. The clinical and pathological findings in EDMD patients found to have mutations in more than one gene are also discussed. There is now much interest in the phenotype of several animal models for EDMD which should lead to an increased insight into the pathogenesis of this disorder, particularly that relating to the heart phenotype.
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December 2008
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Conference Article|
November 19 2008
Investigating the pathology of Emery–Dreifuss muscular dystrophy
Susan C. Brown;
Susan C. Brown
1
*Department of Cellular and Molecular Neuroscience, Faculty of Medicine, Imperial College London, Hammersmith Hospital, Du Cane Road, London W12 0NN, U.K.
1To whom correspondence should be addressed (email s.brown@imperial.ac.uk).
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Richard J. Piercy;
Richard J. Piercy
†The Dubowitz Neuromuscular Centre, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, U.K.
‡Royal Veterinary College, Hawkshead Campus, Hawkshead Lane, Hatfield, Herts. AL9 7TA, U.K.
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Francesco Muntoni;
Francesco Muntoni
†The Dubowitz Neuromuscular Centre, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, U.K.
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Caroline A. Sewry
Caroline A. Sewry
†The Dubowitz Neuromuscular Centre, Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, U.K.
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Publisher: Portland Press Ltd
Received:
July 08 2008
Online ISSN: 1470-8752
Print ISSN: 0300-5127
© The Authors Journal compilation © 2008 Biochemical Society
2008
Biochem Soc Trans (2008) 36 (6): 1335–1338.
Article history
Received:
July 08 2008
Citation
Susan C. Brown, Richard J. Piercy, Francesco Muntoni, Caroline A. Sewry; Investigating the pathology of Emery–Dreifuss muscular dystrophy. Biochem Soc Trans 1 December 2008; 36 (6): 1335–1338. doi: https://doi.org/10.1042/BST0361335
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