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Journal article

Distinct phenotypes of congenital acetylcholine receptor deficiency.

Abstract:

We contrast the phenotypes associated with hereditary acetylcholine receptor deficiency arising from mutations in either the acetylcholine receptor epsilon subunit or the endplate acetylcholine receptor clustering protein rapsyn. Mutational screening was performed by amplification of promoter and coding regions by PCR and direct DNA sequencing. We identified mutations in 37 acetylcholine receptor deficiency patients; 18 had acetylcholine receptor-epsilon mutations, 19 had rapsyn mutations. Mu...

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Publication status:
Published

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Publisher copy:
10.1016/j.nmd.2004.03.005

Authors


Cossins, J More by this author
Maxwell, S More by this author
Nicolle, M More by this author
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Journal:
Neuromuscular disorders : NMD
Volume:
14
Issue:
6
Pages:
356-364
Publication date:
2004-06-05
DOI:
EISSN:
1873-2364
ISSN:
0960-8966
URN:
uuid:e5e2ae40-896a-4132-95d6-c11bd9956932
Source identifiers:
242037
Local pid:
pubs:242037

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