Mutations of the valosin-containing protein gene (VCP) are responsible for autosomal-dominant hereditary inclusion-body myopathy associated with frontotemporal dementia and Paget's disease of bone. We identified the p.R155C missense mutation in the VCP gene segregating in an Italian family with three affected siblings, two of whom had a progressive myopathy associated with dementia, whereas one exhibited a progressive myopathy and preclinical signs of Paget's disease of bone. Our study demonstrates that VCP mutations are found in patients of Italian background and may lead to a variable clinical phenotype even within the same kinship.

Gidaro, T., Modoni, A., Sabatelli, M., Tasca, G., Broccolini, A., Mirabella, M., An Italian family with inclusion-body myopathy and frontotemporal dementia due to mutation in the VCP gene, <<MUSCLE & NERVE>>, 2008; 37 (1): 111-114. [doi:10.1002/mus.20890] [http://hdl.handle.net/10807/8576]

An Italian family with inclusion-body myopathy and frontotemporal dementia due to mutation in the VCP gene

Gidaro, Teresa;Modoni, Anna;Sabatelli, Mario;Tasca, Giorgio;Broccolini, Aldobrando;Mirabella, Massimiliano
2008

Abstract

Mutations of the valosin-containing protein gene (VCP) are responsible for autosomal-dominant hereditary inclusion-body myopathy associated with frontotemporal dementia and Paget's disease of bone. We identified the p.R155C missense mutation in the VCP gene segregating in an Italian family with three affected siblings, two of whom had a progressive myopathy associated with dementia, whereas one exhibited a progressive myopathy and preclinical signs of Paget's disease of bone. Our study demonstrates that VCP mutations are found in patients of Italian background and may lead to a variable clinical phenotype even within the same kinship.
2008
Inglese
Gidaro, T., Modoni, A., Sabatelli, M., Tasca, G., Broccolini, A., Mirabella, M., An Italian family with inclusion-body myopathy and frontotemporal dementia due to mutation in the VCP gene, <<MUSCLE & NERVE>>, 2008; 37 (1): 111-114. [doi:10.1002/mus.20890] [http://hdl.handle.net/10807/8576]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/8576
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