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Danon disease due to a novel splice mutation in the LAMP2 gene

Nadeau, Amelie and Therrien, Christian and Karpati, George and Sinnreich, Michael. (2008) Danon disease due to a novel splice mutation in the LAMP2 gene. Muscle & nerve, Vol. 37. pp. 338-342.

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Official URL: http://edoc.unibas.ch/dok/A6004295

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Abstract

Danon disease is a rare X-linked dominant disorder caused by lysosomal-associated membrane protein 2 (LAMP2) deficiency and is characterized by hypertrophic cardiomyopathy, cardiac conduction abnormalities, skeletal vacuolar myopathy, variable degree of mental retardation, and peripheral pigmentary retinopathy. We describe a novel splice mutation in the LAMP2 gene in a French Canadian family. By identifying this novel mutation we were able to offer genetic screening and counseling to all family members. Presymptomatic diagnosis is important as cardiac surveillance can be life-saving.
Faculties and Departments:03 Faculty of Medicine > Departement Biomedizin > Department of Biomedicine, University Hospital Basel > Neuromuscular Research (Sinnreich)
UniBasel Contributors:Sinnreich, Michael
Item Type:Article, refereed
Article Subtype:Research Article
Bibsysno:Link to catalogue
Publisher:John Wiley
ISSN:0148-639X
Note:Publication type according to Uni Basel Research Database: Journal article
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Last Modified:08 Nov 2012 16:22
Deposited On:08 Nov 2012 16:14

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