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Recessive inheritance and variable penetrance of slow-channel congenital myasthenic syndromes.

Abstract:

BACKGROUND: Slow-channel congenital myasthenic syndromes (SCCMS) typically show dominant inheritance. They are caused by missense mutations within the subunits of muscle nicotinic acetylcholine receptors (AChR) that result in prolonged ion channel activations. SCCMS mutations within the AChR subunit are located in various functional domains, whereas fully described mutations in AChR non- subunits have, thus far, been located only in the M2 channel-lining domain. The authors identified and cha...

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Publisher copy:
10.1212/wnl.59.2.162

Authors


Shelley, C More by this author
Brydson, M More by this author
Chauplannaz, G More by this author
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Journal:
Neurology
Volume:
59
Issue:
2
Pages:
162-168
Publication date:
2002-07-05
DOI:
EISSN:
1526-632X
ISSN:
0028-3878
URN:
uuid:e905a11a-0572-4d46-bc71-b6958a9645a8
Source identifiers:
241032
Local pid:
pubs:241032

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