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Conference Paper: An X-linked dominant mutation in LAMP2 causing Danon disease associated with myotonia expanding the spectrum
Title | An X-linked dominant mutation in LAMP2 causing Danon disease associated with myotonia expanding the spectrum |
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Authors | |
Issue Date | 2013 |
Publisher | Elsevier 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? |
Abstract | We 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 ... |
Description | Poster Presentation This journal issues entitled: 18th International Congress of The World Muscle Society |
Persistent Identifier | http://hdl.handle.net/10722/197706 |
ISSN | 2023 Impact Factor: 2.7 2023 SCImago Journal Rankings: 0.824 |
ISI Accession Number ID |
DC Field | Value | Language |
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dc.contributor.author | Chan, SHS | en_US |
dc.contributor.author | Kan, ASY | en_US |
dc.contributor.author | Tse, HF | en_US |
dc.date.accessioned | 2014-05-29T08:44:58Z | - |
dc.date.available | 2014-05-29T08:44:58Z | - |
dc.date.issued | 2013 | en_US |
dc.identifier.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 | en_US |
dc.identifier.issn | 0960-8966 | - |
dc.identifier.uri | http://hdl.handle.net/10722/197706 | - |
dc.description | Poster Presentation | - |
dc.description | This journal issues entitled: 18th International Congress of The World Muscle Society | - |
dc.description.abstract | We 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.language | eng | en_US |
dc.publisher | Elsevier Ltd. The Journal's web site is located at http://www.elsevier.com/locate/nmd | - |
dc.relation.ispartof | Neuromuscular Disorders | en_US |
dc.rights | NOTICE: 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.rights | This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. | - |
dc.title | An X-linked dominant mutation in LAMP2 causing Danon disease associated with myotonia expanding the spectrum | en_US |
dc.type | Conference_Paper | en_US |
dc.identifier.email | Chan, SHS: sophehs@hku.hk | en_US |
dc.identifier.email | Kan, ASY: kansya@hku.hk | - |
dc.identifier.email | Tse, HF: hftse@hku.hk | - |
dc.description.nature | postprint | - |
dc.identifier.doi | 10.1016/j.nmd.2013.06.634 | - |
dc.identifier.hkuros | 229009 | en_US |
dc.identifier.hkuros | 232396 | - |
dc.identifier.volume | 23 | - |
dc.identifier.issue | 9-10 | - |
dc.identifier.spage | 821 | - |
dc.identifier.epage | 821 | - |
dc.identifier.isi | WOS:000324972500261 | - |
dc.publisher.place | United Kingdom | - |
dc.identifier.issnl | 0960-8966 | - |