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

A novel mutation in the VCP gene (G157R)

A novel mutation in the VCP gene (G157R) in a german family with inclusion-body myopathy with paget disease of bone and frontotemporal dementia

✍ Atbin Djamshidian; Jochen Schaefer; Dietrich Haubenberger; Elisabeth Stogmann; F 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 115 KB 👁 1 views

## Abstract Mutations in the valosin‐containing protein (__VCP__) are known to cause autosomal‐dominant inclusion‐body myopathy with Paget's disease of bone and frontotemporal dementia (IBMPFD). We report a novel missense mutation (G157R) in the N‐terminal region of the __VCP__ gene in a German fam