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Synaptic dysfunction in congenital myasthenic syndromes.

Abstract:

Congenital myasthenic syndromes (CMS) are hereditary disorders of neuromuscular transmission characterized by fatigable muscle weakness. The number of cases recognized is increasing with improved diagnosis. To date we have identified over 300 different mutations present in over 350 unrelated kinships. The underlying genetic defects are diverse, involving a series of different genes with a variety of different phenotypes. The type of treatment and its effectiveness will depend on the underlyin...

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Publication status:
Published

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Publisher copy:
10.1111/nyas.12000

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Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Neuroscience, Molecular Medicine
Journal:
Annals of the New York Academy of Sciences
Volume:
1275
Issue:
1
Pages:
63-69
Publication date:
2012-12-05
DOI:
EISSN:
1749-6632
ISSN:
0077-8923
URN:
uuid:62a8e5c9-0b60-4280-a66c-525b26104862
Source identifiers:
369928
Local pid:
pubs:369928

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