Valosin-containing protein and the pathogenesis of frontotemporal dementia associated with inclusion body myopathy
✍ Scribed by Jake B. Guinto; Gillian P. Ritson; J. Paul Taylor; Mark S. Forman
- Book ID
- 106073526
- Publisher
- Springer-Verlag
- Year
- 2007
- Tongue
- English
- Weight
- 365 KB
- Volume
- 114
- Category
- Article
- ISSN
- 0001-6322
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📜 SIMILAR VOLUMES
## Abstract ## Introduction: Inclusion‐body myopathy, Paget disease of the bone, and frontotemporal dementia (IBMPFD) is an autosomal dominant disorder due to mutations in the valosin‐containing protein (VCP) gene. Patients with this disorder may have neuropathic or myopathic features. ## Methods
## 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