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Journal article

Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome.

Abstract:

BACKGROUND: Most congenital myasthenic syndromes (CMS) have postsynaptic defects from mutations within the muscle acetylcholine receptor (AChR). Mutations underlying the slow channel syndrome cause a "gain of function" and usually show dominant inheritance, whereas mutations underlying AChR deficiency or the fast channel syndrome cause a "loss of function" and show recessive inheritance. OBJECTIVE: To characterize the disease mechanism underlying an apparently dominantly inherited CMS that re...

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Publication status:
Published

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Authors


Webster, R More by this author
Brydson, M More by this author
Newsom-Davis, J More by this author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, Clinical Neuroscience
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Journal:
Neurology
Volume:
62
Issue:
7
Pages:
1090-1096
Publication date:
2004-04-05
DOI:
EISSN:
1526-632X
ISSN:
0028-3878
URN:
uuid:98566c34-a1c9-4259-ab2c-25564449a366
Source identifiers:
241217
Local pid:
pubs:241217

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