Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study

Abstract excerpt

Background Valosin-containing protein (VCP) disease, caused by mutations in the VCP gene, results in myopathy, Paget’s disease of bone (PBD) and frontotemporal dementia (FTD). Natural history and genotype–phenotype correlation data are limited. This study characterises patients with mutations in VCP gene and investigates genotype–phenotype correlations. Methods Descriptive retrospective international study...

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