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Conference Paper: Congenital myopathies: characteristic and subtypes in Hong Kong

TitleCongenital myopathies: characteristic and subtypes in Hong Kong
Authors
Issue Date2015
PublisherElsevier Ltd. The Journal's web site is located at http://www.elsevier.com/locate/nmd
Citation
The 20th Congress of the International World Muscle Society (WMS 2015), Brighton, UK., 30 September-4 October 2015. In Neuromuscular Disorders, 2015, v. 25 suppl. 2, p. S278, abstract no. G.P.307 How to Cite?
AbstractCongenital myopathies are a group of childhood onset neuromuscular disorder with the diagnosis mainly based on genetic and pathological features. This is a unique group with phenotypic, genotypic and pathological heterogeneity, so the confirmation of an underlying diagnosis is often challenging. This is the first congenital myopathy case series in Hong Kong. A total of 15 patients have been diagnosed to have congenital myopathies with 11 patients had the genetic mutations being identified (4 patients had RYR1 mutations, 3 patients had ACTA1 mutations, 2 patients had KLHL40 mutations, 1 patient had MTM1 mutation and 1 patient had DNM2 mutation).
DescriptionThis journal suppl. entitled: 20th International Congress of The World Muscle Society
Persistent Identifierhttp://hdl.handle.net/10722/235186
ISSN
2015 Impact Factor: 3.107
2015 SCImago Journal Rankings: 1.447

 

DC FieldValueLanguage
dc.contributor.authorChan, HSS-
dc.contributor.authorHo, RSL-
dc.contributor.authorChan, AOK-
dc.contributor.authorIp, JJK-
dc.contributor.authorWong, S-
dc.contributor.authorNg, GSF-
dc.contributor.authorLee, HCH-
dc.contributor.authorCheng, Y-
dc.contributor.authorLiu, KT-
dc.contributor.authorLee, CN-
dc.contributor.authorFung, STH-
dc.contributor.authorCherk, SWW-
dc.contributor.authorChan, TSK-
dc.contributor.authorLam, WMW-
dc.contributor.authorShek, WH-
dc.contributor.authorWong, VCN-
dc.date.accessioned2016-10-14T13:51:48Z-
dc.date.available2016-10-14T13:51:48Z-
dc.date.issued2015-
dc.identifier.citationThe 20th Congress of the International World Muscle Society (WMS 2015), Brighton, UK., 30 September-4 October 2015. In Neuromuscular Disorders, 2015, v. 25 suppl. 2, p. S278, abstract no. G.P.307-
dc.identifier.issn0960-8966-
dc.identifier.urihttp://hdl.handle.net/10722/235186-
dc.descriptionThis journal suppl. entitled: 20th International Congress of The World Muscle Society-
dc.description.abstractCongenital myopathies are a group of childhood onset neuromuscular disorder with the diagnosis mainly based on genetic and pathological features. This is a unique group with phenotypic, genotypic and pathological heterogeneity, so the confirmation of an underlying diagnosis is often challenging. This is the first congenital myopathy case series in Hong Kong. A total of 15 patients have been diagnosed to have congenital myopathies with 11 patients had the genetic mutations being identified (4 patients had RYR1 mutations, 3 patients had ACTA1 mutations, 2 patients had KLHL40 mutations, 1 patient had MTM1 mutation and 1 patient had DNM2 mutation).-
dc.languageeng-
dc.publisherElsevier Ltd. The Journal's web site is located at http://www.elsevier.com/locate/nmd-
dc.relation.ispartofNeuromuscular Disorders-
dc.rights© 2015. This manuscript version is made available under the CC-BY-NC-ND 4.0 license http://creativecommons.org/licenses/by-nc-nd/4.0/-
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.titleCongenital myopathies: characteristic and subtypes in Hong Kong-
dc.typeConference_Paper-
dc.identifier.emailChan, HSS: sophehs@hku.hk-
dc.identifier.emailWong, VCN: vcnwong@hku.hk-
dc.identifier.authorityChan, HSS=rp02210-
dc.identifier.authorityWong, VCN=rp00334-
dc.description.naturepostprint-
dc.identifier.doi10.1016/j.nmd.2015.06.331-
dc.identifier.hkuros269354-
dc.identifier.volume25-
dc.identifier.issuesuppl. 2-
dc.identifier.spageS278, abstract no. G.P.307-
dc.identifier.epageS278, abstract no. G.P.307-
dc.publisher.placeUnited Kingdom-

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