Mutational spectrum and phenotypic variability of VCP-related neurological disease in the UK

Introduction Hereditary inclusion body myopathy (IBM) with Paget's disease of the bone (PDB) and frontotemporal dementia (FTD) (IBMPFD) is a rare autosomal dominant disorder due to mutations in the valosin-containing protein gene (VCP). The identification of mutations in different exons emphasises that full gene sequencing is required to exclude VCP-related disease.