Article: Intra-familial variation in clinical manifestations and response to ephedrine in siblings with congenital myasthenic syndrome caused by novel COLQ mutations

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Publisher Website: 10.1111/j.1469-8749.2010.03663.x
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PMID: 20370815
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Title	Intra-familial variation in clinical manifestations and response to ephedrine in siblings with congenital myasthenic syndrome caused by novel COLQ mutations
Authors	Yeung, WL1 2 Lam, CW1 Ng, PC1
Issue Date	2010
Publisher	Mac Keith Press. The Journal's web site is located at http://www.mackeith.co.uk/journal.html
Citation	Developmental Medicine And Child Neurology, 2010, v. 52 n. 10, p. e243-e244 [How to Cite?] DOI: http://dx.doi.org/10.1111/j.1469-8749.2010.03663.x
ISSN	0012-1622 2011 Impact Factor: 2.918 2011 SCImago Journal Rankings: 0.162
DOI	http://dx.doi.org/10.1111/j.1469-8749.2010.03663.x
References	References in Scopus

DC Field	Value
dc.contributor.author	Yeung, WL
dc.contributor.author	Lam, CW
dc.contributor.author	Ng, PC
dc.date.accessioned	2010-12-23T08:38:07Z
dc.date.available	2010-12-23T08:38:07Z
dc.date.issued	2010
dc.description.nature	link_to_OA_fulltext
dc.identifier.citation	Developmental Medicine And Child Neurology, 2010, v. 52 n. 10, p. e243-e244 [How to Cite?] DOI: http://dx.doi.org/10.1111/j.1469-8749.2010.03663.x
dc.identifier.doi	http://dx.doi.org/10.1111/j.1469-8749.2010.03663.x
dc.identifier.epage	e244
dc.identifier.hkuros	176797
dc.identifier.isi	WOS:000281641800004
dc.identifier.issn	0012-1622 2011 Impact Factor: 2.918 2011 SCImago Journal Rankings: 0.162
dc.identifier.issue	10
dc.identifier.openurl
dc.identifier.pmid	20370815
dc.identifier.scopus	eid_2-s2.0-77956469323
dc.identifier.spage	e243
dc.identifier.uri	http://hdl.handle.net/10722/129495
dc.identifier.volume	52
dc.language	eng
dc.publisher	Mac Keith Press. The Journal's web site is located at http://www.mackeith.co.uk/journal.html
dc.publisher.place	United Kingdom
dc.relation.ispartof	Developmental Medicine and Child Neurology
dc.relation.references	References in Scopus
dc.subject.mesh	Acetylcholinesterase - deficiency - genetics
dc.subject.mesh	Asian Continental Ancestry Group - genetics
dc.subject.mesh	Collagen - genetics
dc.subject.mesh	Ephedrine - therapeutic use
dc.subject.mesh	Muscle Proteins - genetics
dc.title	Intra-familial variation in clinical manifestations and response to ephedrine in siblings with congenital myasthenic syndrome caused by novel COLQ mutations
dc.type	Article

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Author Affiliations

Prince of Wales Hospital Hong Kong
Alice Ho Miu Ling Nethersole Hospital