Article
Phenotypic variability in three families with valosin-containing protein mutation.
European journal of neurology - 1 Feb 2013
Spina S, Van Laar A D, Murrell J R, Hamilton R L, Kofler J K, Epperson F, Farlow M R, Lopez O L, Quinlan J, DeKosky S T, Ghetti B
Abstract excerpt
BACKGROUND AND PURPOSE: The phenotype of IBMPFD [inclusion body myopathy with Paget's disease of the bone and frontotemporal dementia (FTD)] associated with valosin-containing protein (VCP) mutation is described in three families. METHODS: Probands were identified based on a pathological diagnosis of frontotemporal lobar degeneration with TDP-43-positive inclusions type IV. VCP sequencing was carried out....
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