VCP disease associated with myopathy, Paget disease of bone and frontotemporal dementia: Review of a unique disorder
โ Scribed by Virginia E. Kimonis; Erin Fulchiero; Jouni Vesa; Giles Watts
- Book ID
- 116270683
- Publisher
- Elsevier Science
- Year
- 2008
- Tongue
- English
- Weight
- 167 KB
- Volume
- 1782
- Category
- Article
- ISSN
- 0925-4439
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๐ SIMILAR VOLUMES
## Abstract Mutations in the valosinโcontaining protein (__VCP__) are known to cause autosomalโdominant inclusionโbody myopathy with Paget's disease of bone and frontotemporal dementia (IBMPFD). We report a novel missense mutation (G157R) in the Nโterminal region of the __VCP__ gene in a German fam
## Abstract ## Introduction: Inclusionโbody myopathy, Paget disease of the bone, and frontotemporal dementia (IBMPFD) is an autosomal dominant disorder due to mutations in the valosinโcontaining protein (VCP) gene. Patients with this disorder may have neuropathic or myopathic features. ## Methods