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Conference Paper: An X-linked dominant mutation in LAMP2 causing Danon disease associated with myotonia expanding the spectrum

TitleAn X-linked dominant mutation in LAMP2 causing Danon disease associated with myotonia expanding the spectrum
Authors
Issue Date2013
PublisherElsevier Ltd. The Journal's web site is located at http://www.elsevier.com/locate/nmd
Citation
The 18th International Congress of the World Muscle Society (WMS), Asilomar, CA., 1-5 October 2013. In Neuromuscular Disorders, 2013, v. 23 n. 9-10, p. 821, abstract P.15.9 How to Cite?
AbstractWe describe a family with strong family history of cardiomyopathy. The mother has dilated cardiomyopathy with symptoms onset around 40 years old requiring treatment for both heart failure and atrial fibrillation. She does not have muscle weakness and her creatine kinase level was normal. The elder son has hypertrophic cardiomyopathy with symptoms onset at 20 years old, a mildly elevated creatine kinase of 1000 U/L but no muscle weakness. The younger brother with limited intelligence was asymptomatic all along. At the age of 15 with an incidental finding of raised serum transaminase levels he was referred for further investigations. Initial consultation confirmed mild proximal weakness, calves hypertrophy, creatine kinase up to 3500 U/L and echocardiogram ...
DescriptionPoster Presentation
This journal issues entitled: 18th International Congress of The World Muscle Society
Persistent Identifierhttp://hdl.handle.net/10722/197706
ISSN
2015 Impact Factor: 3.107
2015 SCImago Journal Rankings: 1.447
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorChan, SHSen_US
dc.contributor.authorKan, ASYen_US
dc.contributor.authorTse, HFen_US
dc.date.accessioned2014-05-29T08:44:58Z-
dc.date.available2014-05-29T08:44:58Z-
dc.date.issued2013en_US
dc.identifier.citationThe 18th International Congress of the World Muscle Society (WMS), Asilomar, CA., 1-5 October 2013. In Neuromuscular Disorders, 2013, v. 23 n. 9-10, p. 821, abstract P.15.9en_US
dc.identifier.issn0960-8966-
dc.identifier.urihttp://hdl.handle.net/10722/197706-
dc.descriptionPoster Presentation-
dc.descriptionThis journal issues entitled: 18th International Congress of The World Muscle Society-
dc.description.abstractWe describe a family with strong family history of cardiomyopathy. The mother has dilated cardiomyopathy with symptoms onset around 40 years old requiring treatment for both heart failure and atrial fibrillation. She does not have muscle weakness and her creatine kinase level was normal. The elder son has hypertrophic cardiomyopathy with symptoms onset at 20 years old, a mildly elevated creatine kinase of 1000 U/L but no muscle weakness. The younger brother with limited intelligence was asymptomatic all along. At the age of 15 with an incidental finding of raised serum transaminase levels he was referred for further investigations. Initial consultation confirmed mild proximal weakness, calves hypertrophy, creatine kinase up to 3500 U/L and echocardiogram ...-
dc.languageengen_US
dc.publisherElsevier Ltd. The Journal's web site is located at http://www.elsevier.com/locate/nmd-
dc.relation.ispartofNeuromuscular Disordersen_US
dc.rightsNOTICE: this is the author’s version of a work that was accepted for publication in Neuromuscular Disorders. Changes resulting from the publishing process, such as peer review, editing, corrections, structural formatting, and other quality control mechanisms may not be reflected in this document. Changes may have been made to this work since it was submitted for publication. A definitive version was subsequently published in Neuromuscular Disorders, 23(9-10), Oct 2013. DOI: 10.1016/j.nmd.2013.06.634-
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.titleAn X-linked dominant mutation in LAMP2 causing Danon disease associated with myotonia expanding the spectrumen_US
dc.typeConference_Paperen_US
dc.identifier.emailChan, SHS: sophehs@hku.hken_US
dc.identifier.emailKan, ASY: kansya@hku.hk-
dc.identifier.emailTse, HF: hftse@hku.hk-
dc.description.naturepostprint-
dc.identifier.doi10.1016/j.nmd.2013.06.634-
dc.identifier.hkuros229009en_US
dc.identifier.hkuros232396-
dc.identifier.volume23-
dc.identifier.issue9-10-
dc.identifier.spage821-
dc.identifier.epage821-
dc.identifier.isiWOS:000324972500261-
dc.publisher.placeUnited Kingdom-

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