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Congenital myasthenic syndromes and the formation of the neuromuscular junction

Abstract:

The congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders affecting neuromuscular transmission. Underlying mutations have been identified in at least 11 different genes. The majority of the CMS patients have disorders due to mutations in postsynaptic proteins. Initial studies focused on dysfunction of the acetylcholine receptor (AChR) itself as the major cause of CMS. However, it is becoming apparent that mutations of proteins involved in clustering the AChR and maintai...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1196/annals.1405.049

Authors


More by this author
Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
Weatherall Insti. of Molecular Medicine
Research group:
Neurosciences Group
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
Weatherall Insti. of Molecular Medicine
Research group:
Neurosciences Group
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
Weatherall Insti. of Molecular Medicine
Research group:
Neurosciences Group
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
Weatherall Insti. of Molecular Medicine
Research group:
Neurosciences Group
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
Weatherall Insti. of Molecular Medicine
Research group:
Neurosciences Group
Role:
Author

Contributors

Publisher:
Wiley-Blackwell
Journal:
Annals of the New York Academy of Sciences More from this journal
Volume:
1132
Pages:
99-103
Publication date:
2008-01-01
DOI:
EISSN:
1749-6632
Language:
English
Keywords:
Subjects:
UUID:
uuid:f3d91419-4302-4ce2-8251-699e2d78a115
Local pid:
ora:5810
Deposit date:
2011-10-24

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