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Journal article

Inherited disorders of the neuromuscular junction: an update.

Abstract:

Congenital myasthenic syndromes (CMSs) are a group of heterogeneous inherited disorders caused by mutations in genes affecting the function and structure of the neuromuscular junction. This review updates the reader on established and novel subtypes of congenital myasthenia, and the treatment strategies for these increasingly heterogeneous disorders. The discovery of mutations associated with the N-glycosylation pathway and in the family of serine peptidases has shown that causative genes enc...

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Publication status:
Published

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Publisher copy:
10.1007/s00415-014-7520-7

Authors


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Institution:
University of Oxford
Division:
MSD
Department:
Clinical Neurosciences
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
Weatherall Insti. of Molecular Medicine
Role:
Author
Publisher:
Dr. Dietrich Steinkopff Verlag GmbH and Co. KG
Journal:
Journal of neurology
Volume:
261
Issue:
11
Pages:
2234-2243
Publication date:
2014-11-01
DOI:
EISSN:
1432-1459
ISSN:
0340-5354
Source identifiers:
486676
Language:
English
Keywords:
Pubs id:
pubs:486676
UUID:
uuid:f478d089-0ad8-41ef-9aad-29f259e5570d
Local pid:
pubs:486676
Deposit date:
2014-10-16

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