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Novel valosin containing protein mutation in a Swiss family with hereditary inclusion body myopathy and dementia

Peyer, A. K. and Kinter, J. and Hench, J. and Frank, S. and Fuhr, P. and Thomann, S. and Fischmann, A. and Kneifel, S. and Camano, P. and Munain, A. L. and Sinnreich, M. and Renaud, S.. (2013) Novel valosin containing protein mutation in a Swiss family with hereditary inclusion body myopathy and dementia. Neuromuscular disorders, Vol. 23, H. 2. pp. 149-154.

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Official URL: http://edoc.unibas.ch/dok/A6338140

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Abstract

Inclusion body myopathy associated with Paget's disease of the bone and frontotemporal dementia is a rare but highly penetrant autosomal dominant progressive disorder linked to mutations in valosin containing protein (VCP). Here, we characterize a novel mutation in the linker 1 domain of VCP leading to inclusion body myopathy and/or frontotemporal dementia in 3 generations of a Swiss family. A detailed history of several years of clinical follow-up and electrophysiological, radiological and pathological findings are presented. Five out of 6 individuals suffered from progressive myopathy and 2 out of 6 from frontotemporal dementia, respectively. A radiologically suspected Paget's disease of the bone could not been confirmed at autopsy. This case study illustrates that only a subset of individuals shows the full triad of the disease complex and that clinicopathological findings are - when interpreted apart from familial history - hard to distinguish from sporadic inclusion body myositis.
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:Pergamon Press
ISSN:0960-8966
Note:Publication type according to Uni Basel Research Database: Journal article
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Last Modified:10 Apr 2015 09:12
Deposited On:10 Apr 2015 09:12

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