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A mouse model of AChR deficiency syndrome with a phenotype reflecting the human condition.

Abstract:

The two subtypes of mammalian muscle nicotinic acetylcholine receptors (AChR) are generated by the substitution of the epsilon (adult) subunit for the gamma (fetal) subunit within the AChR pentamer. Null mutations of the adult AChR epsilon-subunit gene are the most common cause of the AChR deficiency syndrome. This is a disorder of neuromuscular transmission characterized by non-progressive fatigable muscle weakness present throughout life. In contrast with the human disorder, mice with AChR ...

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Publication status:
Published

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Publisher copy:
10.1093/hmg/ddh320

Authors


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Institution:
University of Oxford
Division:
MSD
Department:
Clinical Neurosciences
Role:
Author
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Journal:
Human molecular genetics
Volume:
13
Issue:
23
Pages:
2947-2957
Publication date:
2004-12-01
DOI:
EISSN:
1460-2083
ISSN:
0964-6906
Source identifiers:
241672
Language:
English
Keywords:
Pubs id:
pubs:241672
UUID:
uuid:6a1d5cde-bcda-495b-a682-193bd34a6c65
Local pid:
pubs:241672
Deposit date:
2012-12-19

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