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Two Australian families with inclusion-body myopathy, Paget’s disease of bone and frontotemporal dementia: Novel clinical and genetic findings

Kumar, K.R., Needham, M., Mina, K., Davis, M., Brewer, J., Staples, C., Ng, K., Sue, C.M. and Mastaglia, F.L. (2010) Two Australian families with inclusion-body myopathy, Paget’s disease of bone and frontotemporal dementia: Novel clinical and genetic findings. Neuromuscular Disorders, 20 (5). pp. 330-334.

Link to Published Version: http://dx.doi.org/10.1016/j.nmd.2010.03.002
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Abstract

We report the first Australian families with inclusion-body myopathy, Paget’s disease of the bone and frontotemporal dementia (IBMPFD). The clinical characteristics of the two pedigrees are described including a previously undescribed phenotypic feature of pyramidal tract dysfunction in one family member. A novel mutation in the valosin-containing protein (VCP) gene (p.Arg155Leu) was found in one family while the other family had a previously reported mutation (p.Leu198Trp). Our findings broaden the phenotypic spectrum of IBMPFD and further emphasise the resemblance to amyotrophic lateral sclerosis in some cases.

Publication Type: Journal Article
Publisher: Elsevier BV
Copyright: © 2010 Elsevier B.V.
URI: http://researchrepository.murdoch.edu.au/id/eprint/25511
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