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Journal article

CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn.

Abstract:

The objective of this study was to analyse the mutations of the acetylcholine receptor (AChR) delta subunit gene (CHRND) in a patient with sporadic congenital myasthenic syndrome (CMS). Mutations in various genes encoding proteins expressed at the neuromuscular junction may cause CMS. Mutations of AChR subunit genes lead to end-plate AChR deficiency or to altered kinetic properties of the receptor. Mutations in the alpha, beta and delta subunits of the AChR are less frequent than mutations of...

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Publication status:
Published

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Publisher copy:
10.1093/brain/awl188

Authors


Müller, JS More by this author
Baumeister, SK More by this author
Cossins, J More by this author
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Journal:
Brain : a journal of neurology
Volume:
129
Issue:
Pt 10
Pages:
2784-2793
Publication date:
2006-10-05
DOI:
EISSN:
1460-2156
ISSN:
0006-8950
URN:
uuid:236e7331-ff3c-45c2-8e99-578f75fd1f77
Source identifiers:
242980
Local pid:
pubs:242980

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