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Novel G335V mutation in thetaugene associated with early onset familial frontotemporal dementia

✍ Scribed by Manuela Neumann; Silvia Diekmann; Uwe Bertsch; Ben Vanmassenhove; Bernhard Bogerts; Hans A. Kretzschmar

Publisher
Springer
Year
2005
Tongue
English
Weight
131 KB
Volume
6
Category
Article
ISSN
1364-6745

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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