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

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.

journal_name

Muscle Nerve

journal_title

Muscle & nerve

authors

Gidaro T,Modoni A,Sabatelli M,Tasca G,Broccolini A,Mirabella M

doi

10.1002/mus.20890

subject

Has Abstract

pub_date

2008-01-01 00:00:00

pages

111-4

issue

1

eissn

0148-639X

issn

1097-4598

journal_volume

37

pub_type

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