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

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

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

36 Citazioni (Scopus)

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.
Lingua originaleEnglish
pagine (da-a)111-114
Numero di pagine4
RivistaMUSCLE & NERVE
Stato di pubblicazionePubblicato - 2008

Keywords

  • HIBM

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